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.
rs7270101
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr20:3213247 (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
- A>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.097971 (25932/264690, TOPMED)C=0.087341 (21964/251474, GnomAD_exome)C=0.098737 (13836/140130, GnomAD) (+ 23 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ITPA : Intron Variant
- Publications
- 55 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 | 42556 | A=0.89054 | C=0.10946 |
| European | Sub | 30358 | A=0.87894 | C=0.12106 |
| African | Sub | 7340 | A=0.9289 | C=0.0711 |
| African Others | Sub | 240 | A=0.925 | C=0.075 |
| African American | Sub | 7100 | A=0.9290 | C=0.0710 |
| Asian | Sub | 214 | A=0.995 | C=0.005 |
| East Asian | Sub | 156 | A=1.000 | C=0.000 |
| Other Asian | Sub | 58 | A=0.98 | C=0.02 |
| Latin American 1 | Sub | 168 | A=0.929 | C=0.071 |
| Latin American 2 | Sub | 670 | A=0.919 | C=0.081 |
| South Asian | Sub | 104 | A=0.942 | C=0.058 |
| Other | Sub | 3702 | A=0.8952 | C=0.1048 |
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 | A=0.902029 | C=0.097971 |
| gnomAD - Exomes | Global | Study-wide | 251474 | A=0.912659 | C=0.087341 |
| gnomAD - Exomes | European | Sub | 135404 | A=0.881458 | C=0.118542 |
| gnomAD - Exomes | Asian | Sub | 49008 | A=0.98180 | C=0.01820 |
| gnomAD - Exomes | American | Sub | 34592 | A=0.93001 | C=0.06999 |
| gnomAD - Exomes | African | Sub | 16250 | A=0.92788 | C=0.07212 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | A=0.92401 | C=0.07599 |
| gnomAD - Exomes | Other | Sub | 6140 | A=0.8922 | C=0.1078 |
| gnomAD - Genomes | Global | Study-wide | 140130 | A=0.901263 | C=0.098737 |
| gnomAD - Genomes | European | Sub | 75892 | A=0.88133 | C=0.11867 |
| gnomAD - Genomes | African | Sub | 42004 | A=0.92722 | C=0.07278 |
| gnomAD - Genomes | American | Sub | 13640 | A=0.90609 | C=0.09391 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | A=0.9203 | C=0.0797 |
| gnomAD - Genomes | East Asian | Sub | 3118 | A=0.9990 | C=0.0010 |
| gnomAD - Genomes | Other | Sub | 2152 | A=0.8959 | C=0.1041 |
| ExAC | Global | Study-wide | 121398 | A=0.911366 | C=0.088634 |
| ExAC | Europe | Sub | 73346 | A=0.88134 | C=0.11866 |
| ExAC | Asian | Sub | 25166 | A=0.98148 | C=0.01852 |
| ExAC | American | Sub | 11578 | A=0.93557 | C=0.06443 |
| ExAC | African | Sub | 10402 | A=0.92703 | C=0.07297 |
| ExAC | Other | Sub | 906 | A=0.905 | C=0.095 |
| The PAGE Study | Global | Study-wide | 78698 | A=0.92767 | C=0.07233 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.92471 | C=0.07529 |
| The PAGE Study | Mexican | Sub | 10808 | A=0.92811 | C=0.07189 |
| The PAGE Study | Asian | Sub | 8318 | A=0.9989 | C=0.0011 |
| The PAGE Study | PuertoRican | Sub | 7916 | A=0.8898 | C=0.1102 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.9614 | C=0.0386 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.8752 | C=0.1248 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.8895 | C=0.1105 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.9286 | C=0.0714 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.9304 | C=0.0696 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.8984 | C=0.1016 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.978 | C=0.022 |
| Allele Frequency Aggregator | Total | Global | 42464 | A=0.89061 | C=0.10939 |
| Allele Frequency Aggregator | European | Sub | 30282 | A=0.87894 | C=0.12106 |
| Allele Frequency Aggregator | African | Sub | 7340 | A=0.9289 | C=0.0711 |
| Allele Frequency Aggregator | Other | Sub | 3686 | A=0.8958 | C=0.1042 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 670 | A=0.919 | C=0.081 |
| Allele Frequency Aggregator | Asian | Sub | 214 | A=0.995 | C=0.005 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 168 | A=0.929 | C=0.071 |
| Allele Frequency Aggregator | South Asian | Sub | 104 | A=0.942 | C=0.058 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.99996 | C=0.00004 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.99994 | C=0.00006 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | A=0.88821 | C=0.11179 |
| GO Exome Sequencing Project | European American | Sub | 8600 | A=0.8720 | C=0.1280 |
| GO Exome Sequencing Project | African American | Sub | 4406 | A=0.9199 | C=0.0801 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.9394 | C=0.0606 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.9311 | C=0.0689 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.8712 | C=0.1288 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.9809 | C=0.0191 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=1.0000 | C=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | A=0.919 | C=0.081 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.9409 | C=0.0591 |
| 1000Genomes | African | Sub | 1322 | A=0.9289 | C=0.0711 |
| 1000Genomes | East Asian | Sub | 1008 | A=1.0000 | C=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | A=0.8708 | C=0.1292 |
| 1000Genomes | South Asian | Sub | 978 | A=0.985 | C=0.015 |
| 1000Genomes | American | Sub | 694 | A=0.918 | C=0.082 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.8801 | C=0.1199 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.8485 | C=0.1515 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.8595 | C=0.1405 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.9989 | C=0.0011 |
| HapMap | Global | Study-wide | 1458 | A=0.8978 | C=0.1022 |
| HapMap | African | Sub | 692 | A=0.868 | C=0.132 |
| HapMap | American | Sub | 502 | A=0.920 | C=0.080 |
| HapMap | Europe | Sub | 176 | A=0.898 | C=0.102 |
| HapMap | Asian | Sub | 88 | A=1.00 | C=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.865 | C=0.135 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | A=0.990 | C=0.010 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | A=0.990 | C=0.010 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.950 | C=0.050 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.837 | C=0.163 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.914 | C=0.086 |
| Qatari | Global | Study-wide | 216 | A=0.931 | C=0.069 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 72 | A=0.92 | C=0.08 |
| SGDP_PRJ | Global | Study-wide | 48 | A=0.48 | C=0.52 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.93 | C=0.07 |
| Siberian | Global | Study-wide | 10 | A=0.4 | C=0.6 |
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.3213247A>C |
| GRCh37.p13 chr 20 | NC_000020.10:g.3193893A>C |
| ITPA RefSeqGene | NG_012093.2:g.9381A>C |
Gene: ITPA, inosine triphosphatase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ITPA transcript variant 3 | NM_001267623.2:c.67-738A>C | N/A | Intron Variant |
| ITPA transcript variant 7 |
NM_001324236.2:c.-274-11A… NM_001324236.2:c.-274-11A>C |
N/A | Intron Variant |
| ITPA transcript variant 8 |
NM_001324237.2:c.-214+21A… NM_001324237.2:c.-214+21A>C |
N/A | Intron Variant |
| ITPA transcript variant 9 |
NM_001324238.2:c.-274-11A… NM_001324238.2:c.-274-11A>C |
N/A | Intron Variant |
| ITPA transcript variant 10 | NM_001324240.2:c.124+21A>C | N/A | Intron Variant |
| ITPA transcript variant 5 |
NM_001351739.2:c.-274-11A… NM_001351739.2:c.-274-11A>C |
N/A | Intron Variant |
| ITPA transcript variant 1 | NM_033453.4:c.124+21A>C | N/A | Intron Variant |
| ITPA transcript variant 2 | NM_181493.4:c.73+21A>C | N/A | Intron Variant |
| ITPA transcript variant 4 | NR_052000.2:n. | N/A | Intron Variant |
| ITPA transcript variant 6 | NR_052002.2:n. | N/A | Intron Variant |
| ITPA transcript variant X2 | XM_006723564.4:c.124+21A>C | N/A | Intron Variant |
| ITPA transcript variant X4 | XM_006723565.4:c.67-738A>C | N/A | Intron Variant |
| ITPA transcript variant X5 | XM_011529234.3:c.124+21A>C | N/A | Intron Variant |
| ITPA transcript variant X1 | XM_047440139.1:c.250+21A>C | N/A | Intron Variant |
| ITPA transcript variant X3 | XM_047440140.1:c.250+21A>C | N/A | Intron 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: C (allele ID:
29786
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000015868.31 | Inosine triphosphatase deficiency | Benign |
| RCV001675581.3 | not provided | Benign |
| RCV001730474.3 | Developmental and epileptic encephalopathy, 35 | Benign |
| RCV001787329.2 | peginterferon alfa-2b and ribavirin response - Toxicity | Drug-Response |
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 | A= | C |
|---|---|---|
| GRCh38.p14 chr 20 | NC_000020.11:g.3213247= | NC_000020.11:g.3213247A>C |
| GRCh37.p13 chr 20 | NC_000020.10:g.3193893= | NC_000020.10:g.3193893A>C |
| ITPA RefSeqGene | NG_012093.2:g.9381= | NG_012093.2:g.9381A>C |
| ITPA transcript variant 3 | NM_001267623.1:c.67-738= | NM_001267623.1:c.67-738A>C |
| ITPA transcript variant 3 | NM_001267623.2:c.67-738= | NM_001267623.2:c.67-738A>C |
| ITPA transcript variant 7 | NM_001324236.2:c.-274-11= | NM_001324236.2:c.-274-11A>C |
| ITPA transcript variant 8 | NM_001324237.2:c.-214+21= | NM_001324237.2:c.-214+21A>C |
| ITPA transcript variant 9 | NM_001324238.2:c.-274-11= | NM_001324238.2:c.-274-11A>C |
| ITPA transcript variant 10 | NM_001324240.2:c.124+21= | NM_001324240.2:c.124+21A>C |
| ITPA transcript variant 5 | NM_001351739.2:c.-274-11= | NM_001351739.2:c.-274-11A>C |
| ITPA transcript variant 1 | NM_033453.3:c.124+21= | NM_033453.3:c.124+21A>C |
| ITPA transcript variant 1 | NM_033453.4:c.124+21= | NM_033453.4:c.124+21A>C |
| ITPA transcript variant 2 | NM_181493.2:c.73+21= | NM_181493.2:c.73+21A>C |
| ITPA transcript variant 2 | NM_181493.4:c.73+21= | NM_181493.4:c.73+21A>C |
| ITPA transcript variant X2 | XM_006723564.4:c.124+21= | XM_006723564.4:c.124+21A>C |
| ITPA transcript variant X4 | XM_006723565.4:c.67-738= | XM_006723565.4:c.67-738A>C |
| ITPA transcript variant X5 | XM_011529234.3:c.124+21= | XM_011529234.3:c.124+21A>C |
| ITPA transcript variant X1 | XM_047440139.1:c.250+21= | XM_047440139.1:c.250+21A>C |
| ITPA transcript variant X3 | XM_047440140.1:c.250+21= | XM_047440140.1:c.250+21A>C |
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#.
91 SubSNP,
26 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BCM_SSAHASNP | ss10963718 | Jul 11, 2003 (116) |
| 2 | PERLEGEN | ss69233686 | May 18, 2007 (127) |
| 3 | ILLUMINA | ss75032662 | Dec 06, 2007 (129) |
| 4 | KRIBB_YJKIM | ss119550022 | Dec 01, 2009 (131) |
| 5 | ILLUMINA | ss174316302 | Jul 04, 2010 (132) |
| 6 | 1000GENOMES | ss228224676 | Jul 14, 2010 (132) |
| 7 | 1000GENOMES | ss237740033 | Jul 15, 2010 (132) |
| 8 | 1000GENOMES | ss491171456 | May 04, 2012 (137) |
| 9 | CLINSEQ_SNP | ss491805253 | May 04, 2012 (137) |
| 10 | ILLUMINA | ss535826485 | Sep 08, 2015 (146) |
| 11 | TISHKOFF | ss566099653 | Apr 25, 2013 (138) |
| 12 | NHLBI-ESP | ss713555229 | Apr 25, 2013 (138) |
| 13 | JMKIDD_LAB | ss974508717 | Aug 21, 2014 (142) |
| 14 | EVA-GONL | ss994482441 | Aug 21, 2014 (142) |
| 15 | JMKIDD_LAB | ss1067595789 | Aug 21, 2014 (142) |
| 16 | JMKIDD_LAB | ss1082028493 | Aug 21, 2014 (142) |
| 17 | 1000GENOMES | ss1363858249 | Aug 21, 2014 (142) |
| 18 | OMIM-CURATED-RECORDS | ss1505810942 | Dec 08, 2014 (142) |
| 19 | EVA_GENOME_DK | ss1579413142 | Apr 01, 2015 (144) |
| 20 | EVA_FINRISK | ss1584121404 | Apr 01, 2015 (144) |
| 21 | EVA_UK10K_ALSPAC | ss1638299824 | Apr 01, 2015 (144) |
| 22 | EVA_UK10K_TWINSUK | ss1681293857 | Apr 01, 2015 (144) |
| 23 | EVA_EXAC | ss1693884931 | Apr 01, 2015 (144) |
| 24 | EVA_DECODE | ss1698536743 | Apr 01, 2015 (144) |
| 25 | EVA_MGP | ss1711532061 | Apr 01, 2015 (144) |
| 26 | EVA_SVP | ss1713674685 | Apr 01, 2015 (144) |
| 27 | HAMMER_LAB | ss1809396274 | Sep 08, 2015 (146) |
| 28 | WEILL_CORNELL_DGM | ss1937991373 | Feb 12, 2016 (147) |
| 29 | ILLUMINA | ss1959893396 | Feb 12, 2016 (147) |
| 30 | JJLAB | ss2029772456 | Sep 14, 2016 (149) |
| 31 | USC_VALOUEV | ss2158326476 | Dec 20, 2016 (150) |
| 32 | HUMAN_LONGEVITY | ss2240900326 | Dec 20, 2016 (150) |
| 33 | GNOMAD | ss2744435005 | Nov 08, 2017 (151) |
| 34 | GNOMAD | ss2750330009 | Nov 08, 2017 (151) |
| 35 | GNOMAD | ss2964857650 | Nov 08, 2017 (151) |
| 36 | AFFY | ss2985207991 | Nov 08, 2017 (151) |
| 37 | AFFY | ss2985828655 | Nov 08, 2017 (151) |
| 38 | SWEGEN | ss3017782673 | Nov 08, 2017 (151) |
| 39 | ILLUMINA | ss3022095457 | Nov 08, 2017 (151) |
| 40 | BIOINF_KMB_FNS_UNIBA | ss3028718193 | Nov 08, 2017 (151) |
| 41 | CSHL | ss3352392313 | Nov 08, 2017 (151) |
| 42 | ILLUMINA | ss3628337516 | Oct 12, 2018 (152) |
| 43 | ILLUMINA | ss3638331304 | Oct 12, 2018 (152) |
| 44 | ILLUMINA | ss3643295104 | Oct 12, 2018 (152) |
| 45 | OMUKHERJEE_ADBS | ss3646545565 | Oct 12, 2018 (152) |
| 46 | ILLUMINA | ss3652549564 | Oct 12, 2018 (152) |
| 47 | ILLUMINA | ss3653976218 | Oct 12, 2018 (152) |
| 48 | EGCUT_WGS | ss3684496232 | Jul 13, 2019 (153) |
| 49 | EVA_DECODE | ss3706453350 | Jul 13, 2019 (153) |
| 50 | ILLUMINA | ss3725895152 | Jul 13, 2019 (153) |
| 51 | ACPOP | ss3743200986 | Jul 13, 2019 (153) |
| 52 | EVA | ss3758356792 | Jul 13, 2019 (153) |
| 53 | PAGE_CC | ss3772032376 | Jul 13, 2019 (153) |
| 54 | PACBIO | ss3788584585 | Jul 13, 2019 (153) |
| 55 | PACBIO | ss3793487056 | Jul 13, 2019 (153) |
| 56 | PACBIO | ss3798374184 | Jul 13, 2019 (153) |
| 57 | KHV_HUMAN_GENOMES | ss3821528429 | Jul 13, 2019 (153) |
| 58 | EVA | ss3825346750 | Apr 27, 2020 (154) |
| 59 | EVA | ss3825947525 | Apr 27, 2020 (154) |
| 60 | EVA | ss3835558652 | Apr 27, 2020 (154) |
| 61 | EVA | ss3841402953 | Apr 27, 2020 (154) |
| 62 | EVA | ss3846910349 | Apr 27, 2020 (154) |
| 63 | SGDP_PRJ | ss3888621114 | Apr 27, 2020 (154) |
| 64 | KOGIC | ss3981725937 | Apr 27, 2020 (154) |
| 65 | FSA-LAB | ss3984211401 | Apr 27, 2021 (155) |
| 66 | EVA | ss3984745912 | Apr 27, 2021 (155) |
| 67 | EVA | ss3985863589 | Apr 27, 2021 (155) |
| 68 | EVA | ss3986821525 | Apr 27, 2021 (155) |
| 69 | EVA | ss4017834562 | Apr 27, 2021 (155) |
| 70 | TOPMED | ss5080503850 | Apr 27, 2021 (155) |
| 71 | TOMMO_GENOMICS | ss5228610070 | Apr 27, 2021 (155) |
| 72 | EVA | ss5237250714 | Apr 27, 2021 (155) |
| 73 | EVA | ss5237600901 | Apr 27, 2021 (155) |
| 74 | 1000G_HIGH_COVERAGE | ss5307903035 | Oct 13, 2022 (156) |
| 75 | EVA | ss5435928613 | Oct 13, 2022 (156) |
| 76 | HUGCELL_USP | ss5500321108 | Oct 13, 2022 (156) |
| 77 | 1000G_HIGH_COVERAGE | ss5613896187 | Oct 13, 2022 (156) |
| 78 | EVA | ss5624111318 | Oct 13, 2022 (156) |
| 79 | SANFORD_IMAGENETICS | ss5624478851 | Oct 13, 2022 (156) |
| 80 | SANFORD_IMAGENETICS | ss5662758741 | Oct 13, 2022 (156) |
| 81 | TOMMO_GENOMICS | ss5787532977 | Oct 13, 2022 (156) |
| 82 | EVA | ss5799404805 | Oct 13, 2022 (156) |
| 83 | EVA | ss5799466081 | Oct 13, 2022 (156) |
| 84 | EVA | ss5845370697 | Oct 13, 2022 (156) |
| 85 | EVA | ss5847501119 | Oct 13, 2022 (156) |
| 86 | EVA | ss5847912322 | Oct 13, 2022 (156) |
| 87 | EVA | ss5848542675 | Oct 13, 2022 (156) |
| 88 | EVA | ss5922465485 | Oct 13, 2022 (156) |
| 89 | EVA | ss5957656558 | Oct 13, 2022 (156) |
| 90 | EVA | ss5979608213 | Oct 13, 2022 (156) |
| 91 | EVA | ss5981315881 | Oct 13, 2022 (156) |
| 92 | 1000Genomes | NC_000020.10 - 3193893 | Oct 12, 2018 (152) |
| 93 | 1000Genomes_30x | NC_000020.11 - 3213247 | Oct 13, 2022 (156) |
| 94 | The Avon Longitudinal Study of Parents and Children | NC_000020.10 - 3193893 | Oct 12, 2018 (152) |
| 95 | Genetic variation in the Estonian population | NC_000020.10 - 3193893 | Oct 12, 2018 (152) |
| 96 | ExAC | NC_000020.10 - 3193893 | Oct 12, 2018 (152) |
| 97 | FINRISK | NC_000020.10 - 3193893 | Apr 27, 2020 (154) |
| 98 | The Danish reference pan genome | NC_000020.10 - 3193893 | Apr 27, 2020 (154) |
| 99 | gnomAD - Genomes | NC_000020.11 - 3213247 | Apr 27, 2021 (155) |
| 100 | gnomAD - Exomes | NC_000020.10 - 3193893 | Jul 13, 2019 (153) |
| 101 | GO Exome Sequencing Project | NC_000020.10 - 3193893 | Oct 12, 2018 (152) |
| 102 | Genome of the Netherlands Release 5 | NC_000020.10 - 3193893 | Apr 27, 2020 (154) |
| 103 | HapMap | NC_000020.11 - 3213247 | Apr 27, 2020 (154) |
| 104 | Korean Genome Project | NC_000020.11 - 3213247 | Apr 27, 2020 (154) |
| 105 | Medical Genome Project healthy controls from Spanish population | NC_000020.10 - 3193893 | Apr 27, 2020 (154) |
| 106 | Northern Sweden | NC_000020.10 - 3193893 | Jul 13, 2019 (153) |
| 107 | The PAGE Study | NC_000020.11 - 3213247 | Jul 13, 2019 (153) |
| 108 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000020.10 - 3193893 | Apr 27, 2021 (155) |
| 109 | CNV burdens in cranial meningiomas | NC_000020.10 - 3193893 | Apr 27, 2021 (155) |
| 110 | Qatari | NC_000020.10 - 3193893 | Apr 27, 2020 (154) |
| 111 | SGDP_PRJ | NC_000020.10 - 3193893 | Apr 27, 2020 (154) |
| 112 | Siberian | NC_000020.10 - 3193893 | Apr 27, 2020 (154) |
| 113 | 8.3KJPN | NC_000020.10 - 3193893 | Apr 27, 2021 (155) |
| 114 | 14KJPN | NC_000020.11 - 3213247 | Oct 13, 2022 (156) |
| 115 | TopMed | NC_000020.11 - 3213247 | Apr 27, 2021 (155) |
| 116 | UK 10K study - Twins | NC_000020.10 - 3193893 | Oct 12, 2018 (152) |
| 117 | ALFA | NC_000020.11 - 3213247 | Apr 27, 2021 (155) |
| 118 | ClinVar | RCV000015868.31 | Oct 13, 2022 (156) |
| 119 | ClinVar | RCV001675581.3 | Oct 13, 2022 (156) |
| 120 | ClinVar | RCV001730474.3 | Oct 13, 2022 (156) |
| 121 | ClinVar | RCV001787329.2 | 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss491805253, ss1698536743, ss1713674685, ss3643295104 | NC_000020.9:3141892:A:C | NC_000020.11:3213246:A:C | (self) |
| 77290328, 42781297, 30234480, 5431343, 117865, 5578081, 13752763, 1803680, 19062169, 647821, 16485851, 1089516, 295478, 20033295, 40638094, 10842830, 86579377, 42781297, ss228224676, ss237740033, ss491171456, ss535826485, ss566099653, ss713555229, ss974508717, ss994482441, ss1067595789, ss1082028493, ss1363858249, ss1579413142, ss1584121404, ss1638299824, ss1681293857, ss1693884931, ss1711532061, ss1809396274, ss1937991373, ss1959893396, ss2029772456, ss2158326476, ss2744435005, ss2750330009, ss2964857650, ss2985207991, ss2985828655, ss3017782673, ss3022095457, ss3352392313, ss3628337516, ss3638331304, ss3646545565, ss3652549564, ss3653976218, ss3684496232, ss3743200986, ss3758356792, ss3788584585, ss3793487056, ss3798374184, ss3825346750, ss3825947525, ss3835558652, ss3841402953, ss3888621114, ss3984211401, ss3984745912, ss3985863589, ss3986821525, ss4017834562, ss5228610070, ss5237600901, ss5435928613, ss5624111318, ss5624478851, ss5662758741, ss5799404805, ss5799466081, ss5845370697, ss5847501119, ss5847912322, ss5848542675, ss5957656558, ss5979608213, ss5981315881 | NC_000020.10:3193892:A:C | NC_000020.11:3213246:A:C | (self) |
| RCV000015868.31, RCV001675581.3, RCV001730474.3, RCV001787329.2, 101422122, 545023535, 2054283, 38103938, 1253845, 121370081, 355612795, 13814508750, ss1505810942, ss2240900326, ss3028718193, ss3706453350, ss3725895152, ss3772032376, ss3821528429, ss3846910349, ss3981725937, ss5080503850, ss5237250714, ss5307903035, ss5500321108, ss5613896187, ss5787532977, ss5922465485 | NC_000020.11:3213246:A:C | NC_000020.11:3213246:A:C | (self) |
| ss10963718, ss69233686, ss75032662, ss119550022, ss174316302 | NT_011387.8:3133892:A:C | NC_000020.11:3213246:A:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
55
citations for rs7270101
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 12384777 | Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. | Sumi S et al. | 2002 | Human genetics |
| 18662289 | Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine. | Hawwa AF et al. | 2008 | British journal of clinical pharmacology |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 26933517 | Modeling Ribavirin-Induced Anemia in Patients with Chronic Hepatitis C Virus. | Wu LS et al. | 2016 | CPT |
| 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 |
| 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) |
| 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 |
| 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 |
| 28233743 | High Prevalence of ITPA Alleles Associated with Ribavirin-Induced Hemolytic Anemia Among Mexican Population. | Gonzalez-Aldaco K et al. | 2017 | Annals of hepatology |
| 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 |
| 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 |
| 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 |
| 30817703 | Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype. | Tanaka Y et al. | 2019 | Therapeutic drug monitoring |
| 31153415 | ||||
| 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 |
| 31556692 | NUDT15 and TPMT Genetic Polymorphisms Are Related to Azathioprine Intolerance in Chinese Patients with Rheumatic Diseases. | Yang J et al. | 2019 | Genetic testing and molecular biomarkers |
| 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 |
| 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) |
| 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 |
| 35034963 | Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis. | Barba E et al. | 2022 | The pharmacogenomics journal |
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.