dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1127354
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr20:3213196 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.061321 (16231/264690, TOPMED)A=0.075199 (18912/251492, GnomAD_exome)A=0.074709 (17632/236010, ALFA) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ITPA : Missense Variant
- Publications
- 117 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 252514 | C=0.926166 | A=0.073834 |
| European | Sub | 206872 | C=0.926805 | A=0.073195 |
| African | Sub | 10676 | C=0.95654 | A=0.04346 |
| African Others | Sub | 378 | C=0.952 | A=0.048 |
| African American | Sub | 10298 | C=0.95669 | A=0.04331 |
| Asian | Sub | 6666 | C=0.8464 | A=0.1536 |
| East Asian | Sub | 4782 | C=0.8400 | A=0.1600 |
| Other Asian | Sub | 1884 | C=0.8625 | A=0.1375 |
| Latin American 1 | Sub | 926 | C=0.941 | A=0.059 |
| Latin American 2 | Sub | 5316 | C=0.9691 | A=0.0309 |
| South Asian | Sub | 330 | C=0.900 | A=0.100 |
| Other | Sub | 21728 | C=0.91891 | A=0.08109 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.938679 | A=0.061321 |
| gnomAD - Exomes | Global | Study-wide | 251492 | C=0.924801 | A=0.075199 |
| gnomAD - Exomes | European | Sub | 135416 | C=0.932106 | A=0.067894 |
| gnomAD - Exomes | Asian | Sub | 49008 | C=0.86043 | A=0.13957 |
| gnomAD - Exomes | American | Sub | 34592 | C=0.97343 | A=0.02657 |
| gnomAD - Exomes | African | Sub | 16256 | C=0.95448 | A=0.04552 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | C=0.92748 | A=0.07252 |
| gnomAD - Exomes | Other | Sub | 6140 | C=0.9205 | A=0.0795 |
| Allele Frequency Aggregator | Total | Global | 236010 | C=0.925291 | A=0.074709 |
| Allele Frequency Aggregator | European | Sub | 196658 | C=0.926639 | A=0.073361 |
| Allele Frequency Aggregator | Other | Sub | 20276 | C=0.91778 | A=0.08222 |
| Allele Frequency Aggregator | Asian | Sub | 6666 | C=0.8464 | A=0.1536 |
| Allele Frequency Aggregator | African | Sub | 5838 | C=0.9551 | A=0.0449 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5316 | C=0.9691 | A=0.0309 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 926 | C=0.941 | A=0.059 |
| Allele Frequency Aggregator | South Asian | Sub | 330 | C=0.900 | A=0.100 |
| gnomAD - Genomes | Global | Study-wide | 140192 | C=0.938955 | A=0.061045 |
| gnomAD - Genomes | European | Sub | 75922 | C=0.93026 | A=0.06974 |
| gnomAD - Genomes | African | Sub | 42030 | C=0.95560 | A=0.04440 |
| gnomAD - Genomes | American | Sub | 13642 | C=0.96357 | A=0.03643 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.9311 | A=0.0689 |
| gnomAD - Genomes | East Asian | Sub | 3124 | C=0.8223 | A=0.1777 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.9461 | A=0.0539 |
| ExAC | Global | Study-wide | 121406 | C=0.922903 | A=0.077097 |
| ExAC | Europe | Sub | 73352 | C=0.93053 | A=0.06947 |
| ExAC | Asian | Sub | 25162 | C=0.86392 | A=0.13608 |
| ExAC | American | Sub | 11578 | C=0.97357 | A=0.02643 |
| ExAC | African | Sub | 10406 | C=0.95483 | A=0.04517 |
| ExAC | Other | Sub | 908 | C=0.930 | A=0.070 |
| The PAGE Study | Global | Study-wide | 78700 | C=0.94227 | A=0.05773 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | C=0.95547 | A=0.04453 |
| The PAGE Study | Mexican | Sub | 10808 | C=0.96586 | A=0.03414 |
| The PAGE Study | Asian | Sub | 8318 | C=0.8424 | A=0.1576 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.9578 | A=0.0422 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9294 | A=0.0706 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.9414 | A=0.0586 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.9475 | A=0.0525 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9633 | A=0.0367 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9677 | A=0.0323 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.9484 | A=0.0516 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.891 | A=0.109 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.85317 | A=0.14683 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.85376 | A=0.14624 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9126 | A=0.0874 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9558 | A=0.0442 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.9281 | A=0.0719 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.8819 | A=0.1181 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.8231 | A=0.1769 |
| 1000Genomes_30x | American | Sub | 980 | C=0.958 | A=0.042 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9105 | A=0.0895 |
| 1000Genomes | African | Sub | 1322 | C=0.9554 | A=0.0446 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.8313 | A=0.1687 |
| 1000Genomes | Europe | Sub | 1006 | C=0.9294 | A=0.0706 |
| 1000Genomes | South Asian | Sub | 978 | C=0.878 | A=0.122 |
| 1000Genomes | American | Sub | 694 | C=0.958 | A=0.042 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9145 | A=0.0855 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9305 | A=0.0695 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9315 | A=0.0685 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3290 | C=0.9760 | A=0.0240 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3290 | C=0.9760 | A=0.0240 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.8628 | A=0.1372 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.939 | A=0.061 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.872 | A=0.128 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.872 | A=0.128 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | C=0.801 | A=0.199 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.932 | A=0.068 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.942 | A=0.058 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.928 | A=0.072 |
| Qatari | Global | Study-wide | 216 | C=0.972 | A=0.028 |
| SGDP_PRJ | Global | Study-wide | 74 | C=0.42 | A=0.58 |
| Siberian | Global | Study-wide | 6 | C=0.5 | A=0.5 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 20 | NC_000020.11:g.3213196C>A |
| GRCh38.p14 chr 20 | NC_000020.11:g.3213196C>G |
| GRCh38.p14 chr 20 | NC_000020.11:g.3213196C>T |
| GRCh37.p13 chr 20 | NC_000020.10:g.3193842C>A |
| GRCh37.p13 chr 20 | NC_000020.10:g.3193842C>G |
| GRCh37.p13 chr 20 | NC_000020.10:g.3193842C>T |
| ITPA RefSeqGene | NG_012093.2:g.9330C>A |
| ITPA RefSeqGene | NG_012093.2:g.9330C>G |
| ITPA RefSeqGene | NG_012093.2:g.9330C>T |
Gene: ITPA, inosine triphosphatase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ITPA transcript variant 3 | NM_001267623.2:c.67-789C>A | N/A | Intron Variant |
| ITPA transcript variant 7 |
NM_001324236.2:c.-274-62C… NM_001324236.2:c.-274-62C>A |
N/A | Intron Variant |
| ITPA transcript variant 9 |
NM_001324238.2:c.-274-62C… NM_001324238.2:c.-274-62C>A |
N/A | Intron Variant |
| ITPA transcript variant 5 |
NM_001351739.2:c.-274-62C… NM_001351739.2:c.-274-62C>A |
N/A | Intron Variant |
| ITPA transcript variant 8 | NM_001324237.2:c.-244= | N/A | 5 Prime UTR Variant |
| ITPA transcript variant 1 | NM_033453.4:c.94C>A | P [CCA] > T [ACA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform a | NP_258412.1:p.Pro32Thr | P (Pro) > T (Thr) | Missense Variant |
| ITPA transcript variant 1 | NM_033453.4:c.94C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform a | NP_258412.1:p.Pro32Ala | P (Pro) > A (Ala) | Missense Variant |
| ITPA transcript variant 1 | NM_033453.4:c.94C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform a | NP_258412.1:p.Pro32Ser | P (Pro) > S (Ser) | Missense Variant |
| ITPA transcript variant 10 | NM_001324240.2:c.94C>A | P [CCA] > T [ACA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform e | NP_001311169.1:p.Pro32Thr | P (Pro) > T (Thr) | Missense Variant |
| ITPA transcript variant 10 | NM_001324240.2:c.94C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform e | NP_001311169.1:p.Pro32Ala | P (Pro) > A (Ala) | Missense Variant |
| ITPA transcript variant 10 | NM_001324240.2:c.94C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform e | NP_001311169.1:p.Pro32Ser | P (Pro) > S (Ser) | Missense Variant |
| ITPA transcript variant 2 | NM_181493.4:c.43C>A | P [CCA] > T [ACA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform b | NP_852470.1:p.Pro15Thr | P (Pro) > T (Thr) | Missense Variant |
| ITPA transcript variant 2 | NM_181493.4:c.43C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform b | NP_852470.1:p.Pro15Ala | P (Pro) > A (Ala) | Missense Variant |
| ITPA transcript variant 2 | NM_181493.4:c.43C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform b | NP_852470.1:p.Pro15Ser | P (Pro) > S (Ser) | Missense Variant |
| ITPA transcript variant 4 | NR_052000.2:n.386C>A | N/A | Non Coding Transcript Variant |
| ITPA transcript variant 4 | NR_052000.2:n.386C>G | N/A | Non Coding Transcript Variant |
| ITPA transcript variant 4 | NR_052000.2:n.386C>T | N/A | Non Coding Transcript Variant |
| ITPA transcript variant 6 | NR_052002.2:n.148C>A | N/A | Non Coding Transcript Variant |
| ITPA transcript variant 6 | NR_052002.2:n.148C>G | N/A | Non Coding Transcript Variant |
| ITPA transcript variant 6 | NR_052002.2:n.148C>T | N/A | Non Coding Transcript Variant |
| ITPA transcript variant X4 | XM_006723565.4:c.67-789C>A | N/A | Intron Variant |
| ITPA transcript variant X1 | XM_047440139.1:c.220C>A | P [CCA] > T [ACA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X1 | XP_047296095.1:p.Pro74Thr | P (Pro) > T (Thr) | Missense Variant |
| ITPA transcript variant X1 | XM_047440139.1:c.220C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X1 | XP_047296095.1:p.Pro74Ala | P (Pro) > A (Ala) | Missense Variant |
| ITPA transcript variant X1 | XM_047440139.1:c.220C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X1 | XP_047296095.1:p.Pro74Ser | P (Pro) > S (Ser) | Missense Variant |
| ITPA transcript variant X2 | XM_006723564.4:c.94C>A | P [CCA] > T [ACA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X2 | XP_006723627.1:p.Pro32Thr | P (Pro) > T (Thr) | Missense Variant |
| ITPA transcript variant X2 | XM_006723564.4:c.94C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X2 | XP_006723627.1:p.Pro32Ala | P (Pro) > A (Ala) | Missense Variant |
| ITPA transcript variant X2 | XM_006723564.4:c.94C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X2 | XP_006723627.1:p.Pro32Ser | P (Pro) > S (Ser) | Missense Variant |
| ITPA transcript variant X3 | XM_047440140.1:c.220C>A | P [CCA] > T [ACA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X3 | XP_047296096.1:p.Pro74Thr | P (Pro) > T (Thr) | Missense Variant |
| ITPA transcript variant X3 | XM_047440140.1:c.220C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X3 | XP_047296096.1:p.Pro74Ala | P (Pro) > A (Ala) | Missense Variant |
| ITPA transcript variant X3 | XM_047440140.1:c.220C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X3 | XP_047296096.1:p.Pro74Ser | P (Pro) > S (Ser) | Missense Variant |
| ITPA transcript variant X5 | XM_011529234.3:c.94C>A | P [CCA] > T [ACA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X5 | XP_011527536.1:p.Pro32Thr | P (Pro) > T (Thr) | Missense Variant |
| ITPA transcript variant X5 | XM_011529234.3:c.94C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X5 | XP_011527536.1:p.Pro32Ala | P (Pro) > A (Ala) | Missense Variant |
| ITPA transcript variant X5 | XM_011529234.3:c.94C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
| inosine triphosphate pyrophosphatase isoform X5 | XP_011527536.1:p.Pro32Ser | P (Pro) > S (Ser) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
29785
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000015867.33 | Inosine triphosphatase deficiency | Benign |
| RCV001711071.2 | not provided | Benign |
| RCV001787323.2 | peginterferon alfa-2b and ribavirin response - Toxicity | Drug-Response |
| RCV001804735.2 | not specified | Likely-Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 20 | NC_000020.11:g.3213196= | NC_000020.11:g.3213196C>A | NC_000020.11:g.3213196C>G | NC_000020.11:g.3213196C>T |
| GRCh37.p13 chr 20 | NC_000020.10:g.3193842= | NC_000020.10:g.3193842C>A | NC_000020.10:g.3193842C>G | NC_000020.10:g.3193842C>T |
| ITPA RefSeqGene | NG_012093.2:g.9330= | NG_012093.2:g.9330C>A | NG_012093.2:g.9330C>G | NG_012093.2:g.9330C>T |
| ITPA transcript variant 1 | NM_033453.4:c.94= | NM_033453.4:c.94C>A | NM_033453.4:c.94C>G | NM_033453.4:c.94C>T |
| ITPA transcript variant 1 | NM_033453.3:c.94= | NM_033453.3:c.94C>A | NM_033453.3:c.94C>G | NM_033453.3:c.94C>T |
| ITPA transcript variant 2 | NM_181493.4:c.43= | NM_181493.4:c.43C>A | NM_181493.4:c.43C>G | NM_181493.4:c.43C>T |
| ITPA transcript variant 2 | NM_181493.3:c.43= | NM_181493.3:c.43C>A | NM_181493.3:c.43C>G | NM_181493.3:c.43C>T |
| ITPA transcript variant 2 | NM_181493.2:c.43= | NM_181493.2:c.43C>A | NM_181493.2:c.43C>G | NM_181493.2:c.43C>T |
| ITPA transcript variant 8 | NM_001324237.2:c.-244= | NM_001324237.2:c.-244C>A | NM_001324237.2:c.-244C>G | NM_001324237.2:c.-244C>T |
| ITPA transcript variant 8 | NM_001324237.1:c.-244= | NM_001324237.1:c.-244C>A | NM_001324237.1:c.-244C>G | NM_001324237.1:c.-244C>T |
| ITPA transcript variant 10 | NM_001324240.2:c.94= | NM_001324240.2:c.94C>A | NM_001324240.2:c.94C>G | NM_001324240.2:c.94C>T |
| ITPA transcript variant 10 | NM_001324240.1:c.94= | NM_001324240.1:c.94C>A | NM_001324240.1:c.94C>G | NM_001324240.1:c.94C>T |
| ITPA transcript variant 4 | NR_052000.2:n.386= | NR_052000.2:n.386C>A | NR_052000.2:n.386C>G | NR_052000.2:n.386C>T |
| ITPA transcript variant 4 | NR_052000.1:n.194= | NR_052000.1:n.194C>A | NR_052000.1:n.194C>G | NR_052000.1:n.194C>T |
| ITPA transcript variant 6 | NR_052002.2:n.148= | NR_052002.2:n.148C>A | NR_052002.2:n.148C>G | NR_052002.2:n.148C>T |
| ITPA transcript variant 6 | NR_052002.1:n.286= | NR_052002.1:n.286C>A | NR_052002.1:n.286C>G | NR_052002.1:n.286C>T |
| ITPA transcript variant X2 | XM_006723564.4:c.94= | XM_006723564.4:c.94C>A | XM_006723564.4:c.94C>G | XM_006723564.4:c.94C>T |
| ITPA transcript variant X1 | XM_006723564.3:c.94= | XM_006723564.3:c.94C>A | XM_006723564.3:c.94C>G | XM_006723564.3:c.94C>T |
| ITPA transcript variant X1 | XM_006723564.2:c.94= | XM_006723564.2:c.94C>A | XM_006723564.2:c.94C>G | XM_006723564.2:c.94C>T |
| ITPA transcript variant X1 | XM_006723564.1:c.94= | XM_006723564.1:c.94C>A | XM_006723564.1:c.94C>G | XM_006723564.1:c.94C>T |
| ITPA transcript variant X5 | XM_011529234.3:c.94= | XM_011529234.3:c.94C>A | XM_011529234.3:c.94C>G | XM_011529234.3:c.94C>T |
| ITPA transcript variant X3 | XM_011529234.2:c.94= | XM_011529234.2:c.94C>A | XM_011529234.2:c.94C>G | XM_011529234.2:c.94C>T |
| ITPA transcript variant X3 | XM_011529234.1:c.94= | XM_011529234.1:c.94C>A | XM_011529234.1:c.94C>G | XM_011529234.1:c.94C>T |
| ITPA transcript variant X1 | XM_047440139.1:c.220= | XM_047440139.1:c.220C>A | XM_047440139.1:c.220C>G | XM_047440139.1:c.220C>T |
| ITPA transcript variant X3 | XM_047440140.1:c.220= | XM_047440140.1:c.220C>A | XM_047440140.1:c.220C>G | XM_047440140.1:c.220C>T |
| HLC14-06-P transcript | NM_025200.1:c.94= | NM_025200.1:c.94C>A | NM_025200.1:c.94C>G | NM_025200.1:c.94C>T |
| inosine triphosphate pyrophosphatase isoform a | NP_258412.1:p.Pro32= | NP_258412.1:p.Pro32Thr | NP_258412.1:p.Pro32Ala | NP_258412.1:p.Pro32Ser |
| inosine triphosphate pyrophosphatase isoform b | NP_852470.1:p.Pro15= | NP_852470.1:p.Pro15Thr | NP_852470.1:p.Pro15Ala | NP_852470.1:p.Pro15Ser |
| inosine triphosphate pyrophosphatase isoform e | NP_001311169.1:p.Pro32= | NP_001311169.1:p.Pro32Thr | NP_001311169.1:p.Pro32Ala | NP_001311169.1:p.Pro32Ser |
| inosine triphosphate pyrophosphatase isoform X2 | XP_006723627.1:p.Pro32= | XP_006723627.1:p.Pro32Thr | XP_006723627.1:p.Pro32Ala | XP_006723627.1:p.Pro32Ser |
| inosine triphosphate pyrophosphatase isoform X5 | XP_011527536.1:p.Pro32= | XP_011527536.1:p.Pro32Thr | XP_011527536.1:p.Pro32Ala | XP_011527536.1:p.Pro32Ser |
| inosine triphosphate pyrophosphatase isoform X1 | XP_047296095.1:p.Pro74= | XP_047296095.1:p.Pro74Thr | XP_047296095.1:p.Pro74Ala | XP_047296095.1:p.Pro74Ser |
| inosine triphosphate pyrophosphatase isoform X3 | XP_047296096.1:p.Pro74= | XP_047296096.1:p.Pro74Thr | XP_047296096.1:p.Pro74Ala | XP_047296096.1:p.Pro74Ser |
| ITPA transcript variant 3 | NM_001267623.1:c.67-789= | NM_001267623.1:c.67-789C>A | NM_001267623.1:c.67-789C>G | NM_001267623.1:c.67-789C>T |
| ITPA transcript variant 3 | NM_001267623.2:c.67-789= | NM_001267623.2:c.67-789C>A | NM_001267623.2:c.67-789C>G | NM_001267623.2:c.67-789C>T |
| ITPA transcript variant 7 | NM_001324236.2:c.-274-62= | NM_001324236.2:c.-274-62C>A | NM_001324236.2:c.-274-62C>G | NM_001324236.2:c.-274-62C>T |
| ITPA transcript variant 9 | NM_001324238.2:c.-274-62= | NM_001324238.2:c.-274-62C>A | NM_001324238.2:c.-274-62C>G | NM_001324238.2:c.-274-62C>T |
| ITPA transcript variant 5 | NM_001351739.2:c.-274-62= | NM_001351739.2:c.-274-62C>A | NM_001351739.2:c.-274-62C>G | NM_001351739.2:c.-274-62C>T |
| ITPA transcript variant X4 | XM_006723565.4:c.67-789= | XM_006723565.4:c.67-789C>A | XM_006723565.4:c.67-789C>G | XM_006723565.4:c.67-789C>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
124 SubSNP,
24 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss4391113 | May 29, 2002 (123) |
| 2 | PERLEGEN | ss16334859 | Feb 28, 2004 (123) |
| 3 | PERLEGEN | ss24040325 | Sep 20, 2004 (123) |
| 4 | AFFY | ss66006866 | Nov 29, 2006 (130) |
| 5 | ILLUMINA | ss66795578 | Nov 29, 2006 (130) |
| 6 | ILLUMINA | ss66930121 | Nov 29, 2006 (130) |
| 7 | ILLUMINA | ss67087692 | Nov 29, 2006 (130) |
| 8 | PERLEGEN | ss69233685 | May 16, 2007 (130) |
| 9 | AFFY | ss74813600 | Aug 16, 2007 (130) |
| 10 | AFFY | ss74819580 | Aug 16, 2007 (130) |
| 11 | BGI | ss106175446 | Feb 06, 2009 (130) |
| 12 | GMI | ss156094281 | Dec 01, 2009 (131) |
| 13 | ILLUMINA | ss160662512 | Dec 01, 2009 (131) |
| 14 | ILLUMINA | ss169122912 | Jul 04, 2010 (132) |
| 15 | OMICIA | ss169682733 | Aug 28, 2012 (137) |
| 16 | BUSHMAN | ss203812222 | Jul 04, 2010 (132) |
| 17 | 1000GENOMES | ss228224675 | Jul 14, 2010 (132) |
| 18 | 1000GENOMES | ss237740032 | Jul 15, 2010 (132) |
| 19 | 1000GENOMES | ss243931378 | Jul 15, 2010 (132) |
| 20 | OMIM-CURATED-RECORDS | ss275486960 | Nov 19, 2010 (133) |
| 21 | GMI | ss283278586 | May 04, 2012 (137) |
| 22 | NHLBI-ESP | ss342515144 | May 09, 2011 (134) |
| 23 | ILLUMINA | ss481166384 | May 04, 2012 (137) |
| 24 | ILLUMINA | ss481864634 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss484180132 | May 04, 2012 (137) |
| 26 | 1000GENOMES | ss491171453 | May 04, 2012 (137) |
| 27 | EXOME_CHIP | ss491557416 | May 04, 2012 (137) |
| 28 | CLINSEQ_SNP | ss491805250 | May 04, 2012 (137) |
| 29 | ILLUMINA | ss534168881 | Sep 08, 2015 (146) |
| 30 | TISHKOFF | ss566099652 | Apr 25, 2013 (138) |
| 31 | SSMP | ss661969416 | Apr 25, 2013 (138) |
| 32 | ILLUMINA | ss779836192 | Sep 08, 2015 (146) |
| 33 | ILLUMINA | ss780752111 | Sep 08, 2015 (146) |
| 34 | ILLUMINA | ss781413299 | Sep 08, 2015 (146) |
| 35 | ILLUMINA | ss783430262 | Sep 08, 2015 (146) |
| 36 | ILLUMINA | ss835312856 | Sep 08, 2015 (146) |
| 37 | EVA-GONL | ss994482440 | Aug 21, 2014 (142) |
| 38 | JMKIDD_LAB | ss1067595787 | Aug 21, 2014 (142) |
| 39 | JMKIDD_LAB | ss1082028492 | Aug 21, 2014 (142) |
| 40 | 1000GENOMES | ss1363858244 | Aug 21, 2014 (142) |
| 41 | EVA_FINRISK | ss1584121403 | Apr 01, 2015 (144) |
| 42 | EVA_UK10K_ALSPAC | ss1638299822 | Apr 01, 2015 (144) |
| 43 | EVA_UK10K_TWINSUK | ss1681293855 | Apr 01, 2015 (144) |
| 44 | EVA_EXAC | ss1693884917 | Apr 01, 2015 (144) |
| 45 | EVA_DECODE | ss1698536742 | Apr 01, 2015 (144) |
| 46 | EVA_MGP | ss1711532059 | Apr 01, 2015 (144) |
| 47 | ILLUMINA | ss1752383256 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss1917944241 | Feb 12, 2016 (147) |
| 49 | WEILL_CORNELL_DGM | ss1937991372 | Feb 12, 2016 (147) |
| 50 | ILLUMINA | ss1946545598 | Feb 12, 2016 (147) |
| 51 | ILLUMINA | ss1959893392 | Feb 12, 2016 (147) |
| 52 | GENOMED | ss1969077130 | Jul 19, 2016 (147) |
| 53 | JJLAB | ss2029772455 | Sep 14, 2016 (149) |
| 54 | USC_VALOUEV | ss2158326475 | Dec 20, 2016 (150) |
| 55 | HUMAN_LONGEVITY | ss2240900319 | Dec 20, 2016 (150) |
| 56 | ILLUMINA | ss2633769131 | Nov 08, 2017 (151) |
| 57 | ILLUMINA | ss2633769132 | Nov 08, 2017 (151) |
| 58 | GRF | ss2703998127 | Nov 08, 2017 (151) |
| 59 | GNOMAD | ss2744434988 | Nov 08, 2017 (151) |
| 60 | GNOMAD | ss2750330002 | Nov 08, 2017 (151) |
| 61 | GNOMAD | ss2964857643 | Nov 08, 2017 (151) |
| 62 | AFFY | ss2985207988 | Nov 08, 2017 (151) |
| 63 | AFFY | ss2985828654 | Nov 08, 2017 (151) |
| 64 | SWEGEN | ss3017782672 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss3022095453 | Nov 08, 2017 (151) |
| 66 | BIOINF_KMB_FNS_UNIBA | ss3028718192 | Nov 08, 2017 (151) |
| 67 | CSHL | ss3352392312 | Nov 08, 2017 (151) |
| 68 | ILLUMINA | ss3628337512 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3628337513 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3631727304 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3634823623 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3636513425 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3638331303 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3639169147 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3639598517 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3640530921 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3642169464 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3644775923 | Oct 12, 2018 (152) |
| 79 | OMUKHERJEE_ADBS | ss3646545564 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3652549560 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3653976215 | Oct 12, 2018 (152) |
| 82 | EGCUT_WGS | ss3684496230 | Jul 13, 2019 (153) |
| 83 | EVA_DECODE | ss3706453349 | Jul 13, 2019 (153) |
| 84 | ILLUMINA | ss3725895148 | Jul 13, 2019 (153) |
| 85 | ACPOP | ss3743200985 | Jul 13, 2019 (153) |
| 86 | ILLUMINA | ss3744490623 | Jul 13, 2019 (153) |
| 87 | ILLUMINA | ss3745123514 | Jul 13, 2019 (153) |
| 88 | EVA | ss3758356790 | Jul 13, 2019 (153) |
| 89 | PAGE_CC | ss3772032372 | Jul 13, 2019 (153) |
| 90 | ILLUMINA | ss3772619816 | Jul 13, 2019 (153) |
| 91 | KHV_HUMAN_GENOMES | ss3821528427 | Jul 13, 2019 (153) |
| 92 | EVA | ss3825346743 | Apr 27, 2020 (154) |
| 93 | EVA | ss3825947524 | Apr 27, 2020 (154) |
| 94 | EVA | ss3835558651 | Apr 27, 2020 (154) |
| 95 | SGDP_PRJ | ss3888621112 | Apr 27, 2020 (154) |
| 96 | KRGDB | ss3938801864 | Apr 27, 2020 (154) |
| 97 | FSA-LAB | ss3984211400 | Apr 27, 2021 (155) |
| 98 | EVA | ss3984450597 | Apr 27, 2021 (155) |
| 99 | EVA | ss3984745911 | Apr 27, 2021 (155) |
| 100 | EVA | ss3986821524 | Apr 27, 2021 (155) |
| 101 | TOPMED | ss5080503831 | Apr 27, 2021 (155) |
| 102 | TOMMO_GENOMICS | ss5228610067 | Apr 27, 2021 (155) |
| 103 | EVA | ss5236981287 | Apr 27, 2021 (155) |
| 104 | EVA | ss5237600900 | Apr 27, 2021 (155) |
| 105 | EVA | ss5237673971 | Oct 13, 2022 (156) |
| 106 | 1000G_HIGH_COVERAGE | ss5307903031 | Oct 13, 2022 (156) |
| 107 | TRAN_CS_UWATERLOO | ss5314454796 | Oct 13, 2022 (156) |
| 108 | EVA | ss5315989632 | Oct 13, 2022 (156) |
| 109 | EVA | ss5435928607 | Oct 13, 2022 (156) |
| 110 | HUGCELL_USP | ss5500321104 | Oct 13, 2022 (156) |
| 111 | 1000G_HIGH_COVERAGE | ss5613896182 | Oct 13, 2022 (156) |
| 112 | EVA | ss5624111317 | Oct 13, 2022 (156) |
| 113 | SANFORD_IMAGENETICS | ss5624478850 | Oct 13, 2022 (156) |
| 114 | SANFORD_IMAGENETICS | ss5662758738 | Oct 13, 2022 (156) |
| 115 | TOMMO_GENOMICS | ss5787532972 | Oct 13, 2022 (156) |
| 116 | EVA | ss5799404804 | Oct 13, 2022 (156) |
| 117 | YY_MCH | ss5817769519 | Oct 13, 2022 (156) |
| 118 | EVA | ss5845370696 | Oct 13, 2022 (156) |
| 119 | EVA | ss5847912318 | Oct 13, 2022 (156) |
| 120 | EVA | ss5848542674 | Oct 13, 2022 (156) |
| 121 | EVA | ss5853044848 | Oct 13, 2022 (156) |
| 122 | EVA | ss5922465480 | Oct 13, 2022 (156) |
| 123 | EVA | ss5936576351 | Oct 13, 2022 (156) |
| 124 | EVA | ss5957656552 | Oct 13, 2022 (156) |
| 125 | 1000Genomes | NC_000020.10 - 3193842 | Oct 12, 2018 (152) |
| 126 | 1000Genomes_30x | NC_000020.11 - 3213196 | Oct 13, 2022 (156) |
| 127 | The Avon Longitudinal Study of Parents and Children | NC_000020.10 - 3193842 | Oct 12, 2018 (152) |
| 128 | Genetic variation in the Estonian population | NC_000020.10 - 3193842 | Oct 12, 2018 (152) |
| 129 | ExAC | NC_000020.10 - 3193842 | Oct 12, 2018 (152) |
| 130 | FINRISK | NC_000020.10 - 3193842 | Apr 27, 2020 (154) |
| 131 | gnomAD - Genomes | NC_000020.11 - 3213196 | Apr 27, 2021 (155) |
| 132 | gnomAD - Exomes | NC_000020.10 - 3193842 | Jul 13, 2019 (153) |
| 133 | Genome of the Netherlands Release 5 | NC_000020.10 - 3193842 | Apr 27, 2020 (154) |
| 134 | KOREAN population from KRGDB | NC_000020.10 - 3193842 | Apr 27, 2020 (154) |
| 135 | Medical Genome Project healthy controls from Spanish population | NC_000020.10 - 3193842 | Apr 27, 2020 (154) |
| 136 | Northern Sweden | NC_000020.10 - 3193842 | Jul 13, 2019 (153) |
| 137 | The PAGE Study | NC_000020.11 - 3213196 | Jul 13, 2019 (153) |
| 138 | CNV burdens in cranial meningiomas | NC_000020.10 - 3193842 | Apr 27, 2021 (155) |
| 139 | MxGDAR/Encodat-PGx | NC_000020.10 - 3193842 | Apr 27, 2021 (155) |
| 140 | Qatari | NC_000020.10 - 3193842 | Apr 27, 2020 (154) |
| 141 | SGDP_PRJ | NC_000020.10 - 3193842 | Apr 27, 2020 (154) |
| 142 | Siberian | NC_000020.10 - 3193842 | Apr 27, 2020 (154) |
| 143 | 8.3KJPN | NC_000020.10 - 3193842 | Apr 27, 2021 (155) |
| 144 | 14KJPN | NC_000020.11 - 3213196 | Oct 13, 2022 (156) |
| 145 | TopMed | NC_000020.11 - 3213196 | Apr 27, 2021 (155) |
| 146 | UK 10K study - Twins | NC_000020.10 - 3193842 | Oct 12, 2018 (152) |
| 147 | A Vietnamese Genetic Variation Database | NC_000020.10 - 3193842 | Jul 13, 2019 (153) |
| 148 | ALFA | NC_000020.11 - 3213196 | Apr 27, 2021 (155) |
| 149 | ClinVar | RCV000015867.33 | Oct 13, 2022 (156) |
| 150 | ClinVar | RCV001711071.2 | Oct 13, 2022 (156) |
| 151 | ClinVar | RCV001787323.2 | Oct 13, 2022 (156) |
| 152 | ClinVar | RCV001804735.2 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs3177087 | Oct 07, 2004 (123) |
| rs3183216 | Oct 09, 2002 (108) |
| rs11565932 | Sep 24, 2004 (123) |
| rs16988347 | Oct 07, 2004 (123) |
| rs41320251 | May 25, 2008 (130) |
| rs52834049 | Sep 21, 2007 (128) |
| rs111069069 | Nov 20, 2012 (136) |
| rs117814751 | Aug 16, 2010 (132) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss203812222, ss283278586, ss484180132, ss491805250, ss1698536742, ss3639169147, ss3639598517 | NC_000020.9:3141841:C:A | NC_000020.11:3213195:C:A | (self) |
| 77290323, 42781294, 30234478, 5431328, 117864, 13752744, 19062168, 45979258, 647819, 16485850, 295477, 3598, 20033294, 40638092, 10842829, 86579374, 42781294, 9444151, ss228224675, ss237740032, ss243931378, ss342515144, ss481166384, ss481864634, ss491171453, ss491557416, ss534168881, ss566099652, ss661969416, ss779836192, ss780752111, ss781413299, ss783430262, ss835312856, ss994482440, ss1067595787, ss1082028492, ss1363858244, ss1584121403, ss1638299822, ss1681293855, ss1693884917, ss1711532059, ss1752383256, ss1917944241, ss1937991372, ss1946545598, ss1959893392, ss1969077130, ss2029772455, ss2158326475, ss2633769131, ss2633769132, ss2703998127, ss2744434988, ss2750330002, ss2964857643, ss2985207988, ss2985828654, ss3017782672, ss3022095453, ss3352392312, ss3628337512, ss3628337513, ss3631727304, ss3634823623, ss3636513425, ss3638331303, ss3640530921, ss3642169464, ss3644775923, ss3646545564, ss3652549560, ss3653976215, ss3684496230, ss3743200985, ss3744490623, ss3745123514, ss3758356790, ss3772619816, ss3825346743, ss3825947524, ss3835558651, ss3888621112, ss3938801864, ss3984211400, ss3984450597, ss3984745911, ss3986821524, ss5228610067, ss5237600900, ss5315989632, ss5435928607, ss5624111317, ss5624478850, ss5662758738, ss5799404804, ss5845370696, ss5847912318, ss5848542674, ss5936576351, ss5957656552 | NC_000020.10:3193841:C:A | NC_000020.11:3213195:C:A | (self) |
| RCV000015867.33, RCV001711071.2, RCV001787323.2, RCV001804735.2, 101422117, 545023519, 1253841, 121370076, 355612776, 8351564391, ss169682733, ss275486960, ss2240900319, ss3028718192, ss3706453349, ss3725895148, ss3772032372, ss3821528427, ss5080503831, ss5236981287, ss5237673971, ss5307903031, ss5314454796, ss5500321104, ss5613896182, ss5787532972, ss5817769519, ss5853044848, ss5922465480 | NC_000020.11:3213195:C:A | NC_000020.11:3213195:C:A | (self) |
| ss4391113, ss16334859, ss24040325, ss66006866, ss66795578, ss66930121, ss67087692, ss69233685, ss74813600, ss74819580, ss106175446, ss156094281, ss160662512, ss169122912 | NT_011387.8:3133841:C:A | NC_000020.11:3213195:C:A | (self) |
| ss203812222 | NC_000020.9:3141841:C:G | NC_000020.11:3213195:C:G | (self) |
| ss5624478850, ss5847912318 | NC_000020.10:3193841:C:G | NC_000020.11:3213195:C:G | |
| ss5624478850, ss5847912318 | NC_000020.10:3193841:C:T | NC_000020.11:3213195:C:T |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
117
citations for rs1127354
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 11278832 | Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. | Lin S et al. | 2001 | The Journal of biological chemistry |
| 12384777 | Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. | Sumi S et al. | 2002 | Human genetics |
| 12436200 | DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. | Cao H et al. | 2002 | Journal of human genetics |
| 17186469 | Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. | Bergmann C et al. | 2006 | American journal of human genetics |
| 18662289 | Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine. | Hawwa AF et al. | 2008 | British journal of clinical pharmacology |
| 18685564 | Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. | Stocco G et al. | 2009 | Clinical pharmacology and therapeutics |
| 19193698 | Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. | Lee YC et al. | 2009 | Rheumatology (Oxford, England) |
| 19631656 | Functional study of the P32T ITPA variant associated with drug sensitivity in humans. | Stepchenkova EI et al. | 2009 | Journal of molecular biology |
| 20021291 | Genetic polymorphism of inosine-triphosphate-pyrophosphatase influences mercaptopurine metabolism and toxicity during treatment of acute lymphoblastic leukemia individualized for thiopurine-S-methyl-transferase status. | Stocco G et al. | 2010 | Expert opinion on drug safety |
| 20173735 | ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. | Fellay J et al. | 2010 | Nature |
| 20547162 | Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction. | Thompson AJ et al. | 2010 | Gastroenterology |
| 20637204 | ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients. | Ochi H et al. | 2010 | Gastroenterology |
| 20977565 | ITPA gene variant protects against anemia induced by pegylated interferon-α and ribavirin therapy for Japanese patients with chronic hepatitis C. | Sakamoto N et al. | 2010 | Hepatology research |
| 21246582 | Influence of ITPA polymorphisms on decreases of hemoglobin during treatment with pegylated interferon, ribavirin, and telaprevir. | Suzuki F et al. | 2011 | Hepatology (Baltimore, Md.) |
| 21274861 | Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR. | Thompson AJ et al. | 2011 | Hepatology (Baltimore, Md.) |
| 21345258 | Prospects for personalizing antiviral therapy for hepatitis C virus with pharmacogenetics. | Tavis JE et al. | 2011 | Genome medicine |
| 21395650 | Determinants of mercaptopurine toxicity in paediatric acute lymphoblastic leukemia maintenance therapy. | Adam de Beaumais T et al. | 2011 | British journal of clinical pharmacology |
| 21503919 | Common genetic polymorphism of ITPA gene affects ribavirin-induced anemia and effect of peg-interferon plus ribavirin therapy. | Azakami T et al. | 2011 | Journal of medical virology |
| 21628662 | IL28B but not ITPA polymorphism is predictive of response to pegylated interferon, ribavirin, and telaprevir triple therapy in patients with genotype 1 hepatitis C. | Chayama K et al. | 2011 | The Journal of infectious diseases |
| 21659334 | Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C. | Tanaka Y et al. | 2011 | Human molecular genetics |
| 21703177 | Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. | Thompson AJ et al. | 2012 | Journal of hepatology |
| 22028438 | Impact of inosine triphosphatase gene variants on the risk of anemia in HIV/hepatitis C virus-coinfected patients treated for chronic hepatitis C. | Rallón NI et al. | 2011 | Clinical infectious diseases |
| 22052220 | Polymorphism of the inosine triphosphate pyrophosphatase gene predicts ribavirin-induced anemia in chronic hepatitis C patients. | Nishimura T et al. | 2012 | Molecular medicine reports |
| 22118055 | Single and combined IL28B, ITPA and SLC28A3 host genetic markers modulating response to anti-hepatitis C therapy. | Lötsch J et al. | 2011 | Pharmacogenomics |
| 22158703 | Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes. | Naggie S et al. | 2012 | The Journal of infectious diseases |
| 22181672 | Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype. | Motomura T et al. | 2012 | Hepatology research |
| 22406654 | Inosine triphosphatase polymorphisms and ribavirin pharmacokinetics as determinants of ribavirin-associate anemia in patients receiving standard anti-HCV treatment. | DʼAvolio A et al. | 2012 | Therapeutic drug monitoring |
| 22430973 | Association of ITPA gene polymorphisms and the risk of ribavirin-induced anemia in HIV/hepatitis C virus (HCV)-coinfected patients receiving HCV combination therapy. | Domingo P et al. | 2012 | Antimicrobial agents and chemotherapy |
| 22460221 | Anemia and thrombocytosis induced by ribavirin monotherapy in patients with chronic hepatitis C. | Kobayashi T et al. | 2012 | Journal of gastroenterology |
| 22571903 | Gene expression profiles associated with anaemia and ITPA genotypes in patients with chronic hepatitis C (CH-C). | Birerdinc A et al. | 2012 | Journal of viral hepatitis |
| 22584257 | Genetic variants at the ITPA locus protect against ribavirin-induced hemolytic anemia and dose reduction in an HCV G2/G3 cohort. | Eskesen AN et al. | 2012 | European journal of gastroenterology & hepatology |
| 22585729 | ITPA gene polymorphisms significantly affect hemoglobin decline and treatment outcomes in patients coinfected with HIV and HCV. | Osinusi A et al. | 2012 | Journal of medical virology |
| 22613675 | Comparison of three different methods for the evaluation of IL28 and ITPA polymorphisms in patients infected with HCV. | Fiorina L et al. | 2012 | Journal of virological methods |
| 22938532 | Sequencing and analysis of a South Asian-Indian personal genome. | Gupta R et al. | 2012 | BMC genomics |
| 22977575 | Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease. | Osaki R et al. | 2011 | Experimental and therapeutic medicine |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23029095 | Pharmacogenetic analysis of pediatric patients with acute lymphoblastic leukemia: a possible association between survival rate and ITPA polymorphism. | Kim H et al. | 2012 | PloS one |
| 23133602 | Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants. | Vidal F et al. | 2012 | PloS one |
| 23189085 | Impact of genetic polymorphisms on chemotherapy toxicity in childhood acute lymphoblastic leukemia. | Gervasini G et al. | 2012 | Frontiers in genetics |
| 23201294 | Allelic inhibition of displacement activity: a simplified one tube allele-specific PCR for evaluation of ITPA polymorphisms. | Galmozzi E et al. | 2013 | Journal of virological methods |
| 23297176 | Model incorporating the ITPA genotype identifies patients at high risk of anemia and treatment failure with pegylated-interferon plus ribavirin therapy for chronic hepatitis C. | Kurosaki M et al. | 2013 | Journal of medical virology |
| 23300409 | Chapter 7: Pharmacogenomics. | Karczewski KJ et al. | 2012 | PLoS computational biology |
| 23335936 | Multilocus genotypes of relevance for drug metabolizing enzymes and therapy with thiopurines in patients with acute lymphoblastic leukemia. | Stocco G et al. | 2012 | Frontiers in genetics |
| 23490380 | An automated rapid detection system using the quenching probe method for detecting interleukin 28B and inosine triphosphatase single nucleotide polymorphisms in chronic hepatitis C. | Takahashi H et al. | 2013 | Journal of viral hepatitis |
| 23707372 | Clinical milestones for the prediction of severe anemia by chronic hepatitis C patients receiving telaprevir-based triple therapy. | Ogawa E et al. | 2013 | Journal of hepatology |
| 23730840 | Role of IL28B and inosine triphosphatase polymorphisms in the treatment of chronic hepatitis C virus genotype 6 infection. | Seto WK et al. | 2013 | Journal of viral hepatitis |
| 23850877 | Effect of gender and ITPA polymorphisms on ribavirin-induced anemia in chronic hepatitis C patients. | Scherzer TM et al. | 2013 | Journal of hepatology |
| 23919217 | Association of ITPA polymorphism with outcomes of peginterferon-α plus ribavirin combination therapy. | Fujino T et al. | 2013 | World journal of gastrointestinal pharmacology and therapeutics |
| 23957840 | Administration of low-dose epoetin-alpha facilitates adherence to ribavirin in triple therapy with pegylated interferon-alpha-2b and telaprevir. | Ishida H et al. | 2014 | Hepatology research |
| 23980585 | Relationship between inosine triphosphate genotype and outcome of extended therapy in hepatitis C virus patients with a late viral response to pegylated-interferon and ribavirin. | Hai H et al. | 2014 | Journal of gastroenterology and hepatology |
| 24039372 | Extended therapy duration for therapy-refractory hepatitis C patients with genotype 2. | Sato K et al. | 2013 | World journal of gastroenterology |
| 24099469 | Telaprevir-based triple therapy for chronic hepatitis C patients with advanced fibrosis: a prospective clinical study. | Ogawa E et al. | 2013 | Alimentary pharmacology & therapeutics |
| 24449403 | ITPA genotype protects against anemia during peginterferon and ribavirin therapy but does not influence virological response. | Holmes JA et al. | 2014 | Hepatology (Baltimore, Md.) |
| 24519039 | Variants of the inosine triphosphate pyrophosphatase gene are associated with reduced relapse risk following treatment for HCV genotype 2/3. | Rembeck K et al. | 2014 | Hepatology (Baltimore, Md.) |
| 24659876 | Individualization of chronic hepatitis C treatment according to the host characteristics. | Gatselis NK et al. | 2014 | World journal of gastroenterology |
| 24750345 | ITPA genetic variants influence efficacy of PEG-IFN/RBV therapy in older patients infected with HCV genotype 1 and favourable IL28B type. | Matsuura K et al. | 2014 | Journal of viral hepatitis |
| 24774509 | Prevalence of TPMT and ITPA gene polymorphisms and effect on mercaptopurine dosage in Chilean children with acute lymphoblastic leukemia. | Farfan MJ et al. | 2014 | BMC cancer |
| 24819603 | Involvement of MAP3K8 and miR-17-5p in poor virologic response to interferon-based combination therapy for chronic hepatitis C. | Tsubota A et al. | 2014 | PloS one |
| 24841973 | Distribution of genetic polymorphisms associated with hepatitis C virus (HCV) antiviral response in a multiethnic and admixed population. | Trinks J et al. | 2014 | The pharmacogenomics journal |
| 24930407 | Ribavirin dose reduction during telaprevir/ribavirin/peg-interferon therapy overcomes the effect of the ITPA gene polymorphism. | Akamatsu S et al. | 2015 | Journal of viral hepatitis |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25240429 | 5-Aminoimidazole-4-carboxamide ribonucleotide-transformylase and inosine-triphosphate-pyrophosphatase genes variants predict remission rate during methotrexate therapy in patients with juvenile idiopathic arthritis. | Pastore S et al. | 2015 | Rheumatology international |
| 25287662 | FLT3 expression and IL10 promoter polymorphism in acute myeloid leukemia with RUNX1-RUNX1T1. | Kim M et al. | 2015 | Molecular biology reports |
| 25303517 | Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy. | Smid A et al. | 2014 | PloS one |
| 25745368 | Prediction of methotrexate intolerance in juvenile idiopathic arthritis: a prospective, observational cohort study. | van Dijkhuizen EH et al. | 2015 | Pediatric rheumatology online journal |
| 25777545 | Comparative safety study on severe anemia by simeprevir versus telaprevir-based triple therapy for chronic hepatitis C. | Ogawa E et al. | 2015 | Journal of gastroenterology and hepatology |
| 25852556 | Genetic determinants for methotrexate response in juvenile idiopathic arthritis. | Pastore S et al. | 2015 | Frontiers in pharmacology |
| 26071337 | Role of ITPA and SLC28A2 genes in the prediction of anaemia associated with protease inhibitor plus ribavirin and peginterferon in hepatitis C treatment. | Ampuero J et al. | 2015 | Journal of clinical virology |
| 26154744 | Inosine triphosphatase allele frequency and association with ribavirin-induced anaemia in Brazilian patients receiving antiviral therapy for chronic hepatitis C. | Delvaux N et al. | 2015 | Memorias do Instituto Oswaldo Cruz |
| 26418670 | Short interferon and ribavirin treatment for HCV genotype 2 or 3 infection: NORDynamIC trial and real-life experience. | Waldenström J et al. | 2016 | Scandinavian journal of gastroenterology |
| 26438033 | Relationship between ITPA polymorphisms and hemolytic anemia in HCV-infected patients after ribavirin-based therapy: a meta-analysis. | Pineda-Tenor D et al. | 2015 | Journal of translational medicine |
| 26441325 | ITPA Polymorphisms Are Associated with Hematological Side Effects during Antiviral Therapy for Chronic HCV Infection. | Maan R et al. | 2015 | PloS one |
| 26644204 | Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol. | Franca R et al. | 2017 | The pharmacogenomics journal |
| 26650626 | ITPA Genotypes Predict Anemia but Do Not Affect Virological Response with Interferon-Free Faldaprevir, Deleobuvir, and Ribavirin for HCV Infection. | Asselah T et al. | 2015 | PloS one |
| 26670100 | Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study. | About F et al. | 2015 | PloS one |
| 26880169 | Role of ITPA gene polymorphism in ribavirin-induced anemia and thrombocytopenia in Egyptian patients with chronic hepatitis C. | Nemr N et al. | 2016 | Indian journal of gastroenterology |
| 26933517 | Modeling Ribavirin-Induced Anemia in Patients with Chronic Hepatitis C Virus. | Wu LS et al. | 2016 | CPT |
| 26991414 | Impact of ribavirin dosage in chronic hepatitis C patients treated with simeprevir, pegylated interferon plus ribavirin combination therapy. | Tahata Y et al. | 2016 | Journal of medical virology |
| 27081565 | Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis. | Nakauchi A et al. | 2016 | Human genome variation |
| 27148387 | The ITPA and C20orf194 Polymorphisms and Hematological Changes During Treatment With Pegylated-Interferon Plus Ribavirin in Patients With Chronic Hepatitis C. | Pouryasin M et al. | 2016 | Hepatitis monthly |
| 27307154 | A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs. | Skrzypczak-Zielinska M et al. | 2016 | Molecular diagnosis & therapy |
| 27452984 | PACSIN2 polymorphism is associated with thiopurine-induced hematological toxicity in children with acute lymphoblastic leukaemia undergoing maintenance therapy. | Smid A et al. | 2016 | Scientific reports |
| 27770805 | A disease spectrum for ITPA variation: advances in biochemical and clinical research. | Burgis NE et al. | 2016 | Journal of biomedical science |
| 27789224 | Effectiveness and safety of sofosbuvir plus ribavirin for HCV genotype 2 patients 65 and over with or without cirrhosis. | Ogawa E et al. | 2016 | Antiviral research |
| 27792682 | Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy. | Peltenburg NC et al. | 2016 | Journal of acquired immune deficiency syndromes (1999) |
| 27822709 | ITPA polymorphism effects on decrease of hemoglobin during sofosbuvir and ribavirin combination treatment for chronic hepatitis C. | Morio K et al. | 2017 | Journal of gastroenterology |
| 27917361 | IL28B genotype is associated with cirrhosis or transition to cirrhosis in treatment-naive patients with chronic HCV genotype 1 infection: the international observational Gen-C study. | Mangia A et al. | 2016 | SpringerPlus |
| 28109022 | Correlation between polymorphism in the inosine triphosphatase and the reductions in hemoglobin concentration and ribavirin dose during sofosbuvir and ribavirin therapy. | Kozuka R et al. | 2017 | Journal of gastroenterology and hepatology |
| 28128422 | Role of inosine triphosphate pyrophosphatase gene variant on fever incidence during zidovudine antiretroviral therapy. | Coelho AV et al. | 2017 | Genetics and molecular research |
| 28165327 | ITPase activity modulates the severity of anaemia in HCV-related cirrhosis treated with ribavirin-containing interferon-free regimens. | Coppola N et al. | 2017 | Antiviral therapy |
| 28198349 | Impact of ITPA gene polymorphisms on the risk of ribavirin-induced haemolytic anaemia using interferon-free antivirals for chronic hepatitis C. | Esposito I et al. | 2017 | Antiviral therapy |
| 28233743 | High Prevalence of ITPA Alleles Associated with Ribavirin-Induced Hemolytic Anemia Among Mexican Population. | Gonzalez-Aldaco K et al. | 2017 | Annals of hepatology |
| 28480960 | ITPA gene polymorphism (94C>A) effects on ribavirin-induced anemia during therapy in Egyptian patients with chronic hepatitis C. | El Raziky M et al. | 2017 | Journal of medical virology |
| 28543275 | The role of ITPA and ribavirin transporter genes polymorphisms in prediction of ribavirin-induced anaemia in chronic hepatitis C Egyptian patients. | El Desoky ES et al. | 2017 | Clinical and experimental pharmacology & physiology |
| 28723780 | The relationship between ITPA rs1127354 polymorphisms and efficacy of antiviral treatment in Northeast Chinese CHC patients. | Liu Z et al. | 2017 | Medicine |
| 28928439 | Polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with chronic hepatitis C-related hepatocellular carcinoma. | Hai H et al. | 2017 | Scientific reports |
| 29308621 | The rs1127354 Polymorphism in ITPA Is Associated with Susceptibility to Infertility. | Mollaahmadi F et al. | 2018 | Cell journal |
| 29329318 | Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV. | Peltenburg NC et al. | 2018 | PloS one |
| 29387964 | Role of TPMT and ITPA variants in mercaptopurine disposition. | Gerbek T et al. | 2018 | Cancer chemotherapy and pharmacology |
| 29520081 | Evaluation of a clinical pharmacogenetics model to predict methotrexate response in patients with rheumatoid arthritis. | López-Rodríguez R et al. | 2018 | The pharmacogenomics journal |
| 29660762 | A facile PCR-RFLP method for genotyping of ITPA rs1127354 and rs7270101 polymorphisms. | Alavian SE et al. | 2018 | Journal of clinical laboratory analysis |
| 30304447 | Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity. | Peltenburg NC et al. | 2019 | The Journal of antimicrobial chemotherapy |
| 30628539 | Validation of a clinical pharmacogenetic model to predict methotrexate nonresponse in rheumatoid arthritis patients. | Eektimmerman F et al. | 2019 | Pharmacogenomics |
| 30817703 | Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype. | Tanaka Y et al. | 2019 | Therapeutic drug monitoring |
| 31153415 | ||||
| 31359493 | Inosine triphosphate pyrophosphatase polymorphisms are predictors of anemia in Chinese patients with chronic hepatitis C during therapy with ribavirin and interferon. | Chi X et al. | 2020 | Journal of gastroenterology and hepatology |
| 31507415 | ITPA, TPMT, and NUDT15 Genetic Polymorphisms Predict 6-Mercaptopurine Toxicity in Middle Eastern Children With Acute Lymphoblastic Leukemia. | Moradveisi B et al. | 2019 | Frontiers in pharmacology |
| 31639757 | Retrospective Data Analysis of the Influence of Age and Sex on TPMT Activity and Its Phenotype-Genotype Correlation. | Wu F et al. | 2019 | The journal of applied laboratory medicine |
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| 33780152 | Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients. | Singh A et al. | 2021 | International journal of rheumatic diseases |
| 33804051 | The Effect of NUDT15, TPMT, APEX1, and ITPA Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia. | Lee JM et al. | 2021 | Children (Basel, Switzerland) |
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| 34034600 | Absence of interferon-λ 4 enhances spontaneous clearance of acute hepatitis C virus genotypes 1-3 infection. | Waldenström J et al. | 2021 | Scandinavian journal of gastroenterology |
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| 34660484 | Effects of TPMT, NUDT15, and ITPA Genetic Variants on 6-Mercaptopurine Toxicity for Pediatric Patients With Acute Lymphoblastic Leukemia in Yunnan of China. | Mao X et al. | 2021 | Frontiers in pediatrics |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.