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.
rs1800372
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:7674892 (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
- T>A / T>C / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.013669 (3618/264690, TOPMED)C=0.012578 (3163/251468, GnomAD_exome)C=0.012748 (1787/140180, GnomAD) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TP53 : Synonymous Variant
- Publications
- 21 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 | 94690 | T=0.98268 | C=0.01732 |
| European | Sub | 74560 | T=0.98150 | C=0.01850 |
| African | Sub | 8634 | T=0.9955 | C=0.0045 |
| African Others | Sub | 316 | T=1.000 | C=0.000 |
| African American | Sub | 8318 | T=0.9953 | C=0.0047 |
| Asian | Sub | 228 | T=1.000 | C=0.000 |
| East Asian | Sub | 170 | T=1.000 | C=0.000 |
| Other Asian | Sub | 58 | T=1.00 | C=0.00 |
| Latin American 1 | Sub | 522 | T=0.983 | C=0.017 |
| Latin American 2 | Sub | 718 | T=0.986 | C=0.014 |
| South Asian | Sub | 114 | T=1.000 | C=0.000 |
| Other | Sub | 9914 | T=0.9795 | C=0.0205 |
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 | T=0.986331 | C=0.013669 |
| gnomAD - Exomes | Global | Study-wide | 251468 | T=0.987422 | C=0.012578 |
| gnomAD - Exomes | European | Sub | 135394 | T=0.984416 | C=0.015584 |
| gnomAD - Exomes | Asian | Sub | 49010 | T=0.99827 | C=0.00173 |
| gnomAD - Exomes | American | Sub | 34588 | T=0.98699 | C=0.01301 |
| gnomAD - Exomes | African | Sub | 16256 | T=0.99772 | C=0.00228 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | T=0.96627 | C=0.03373 |
| gnomAD - Exomes | Other | Sub | 6140 | T=0.9770 | C=0.0230 |
| gnomAD - Genomes | Global | Study-wide | 140180 | T=0.987252 | C=0.012748 |
| gnomAD - Genomes | European | Sub | 75916 | T=0.98421 | C=0.01579 |
| gnomAD - Genomes | African | Sub | 42018 | T=0.99669 | C=0.00331 |
| gnomAD - Genomes | American | Sub | 13644 | T=0.97962 | C=0.02038 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | T=0.9627 | C=0.0373 |
| gnomAD - Genomes | East Asian | Sub | 3132 | T=0.9997 | C=0.0003 |
| gnomAD - Genomes | Other | Sub | 2148 | T=0.9786 | C=0.0214 |
| ExAC | Global | Study-wide | 121058 | T=0.987964 | C=0.012036 |
| ExAC | Europe | Sub | 73156 | T=0.98320 | C=0.01680 |
| ExAC | Asian | Sub | 25130 | T=0.99825 | C=0.00175 |
| ExAC | American | Sub | 11500 | T=0.98791 | C=0.01209 |
| ExAC | African | Sub | 10368 | T=0.99730 | C=0.00270 |
| ExAC | Other | Sub | 904 | T=0.981 | C=0.019 |
| Allele Frequency Aggregator | Total | Global | 78334 | T=0.98183 | C=0.01817 |
| Allele Frequency Aggregator | European | Sub | 64476 | T=0.98133 | C=0.01867 |
| Allele Frequency Aggregator | Other | Sub | 8480 | T=0.9794 | C=0.0206 |
| Allele Frequency Aggregator | African | Sub | 3796 | T=0.9934 | C=0.0066 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 718 | T=0.986 | C=0.014 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 522 | T=0.983 | C=0.017 |
| Allele Frequency Aggregator | Asian | Sub | 228 | T=1.000 | C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 114 | T=1.000 | C=0.000 |
| 14KJPN | JAPANESE | Study-wide | 28258 | T=0.99996 | C=0.00004 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.99994 | C=0.00006 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | T=0.98631 | C=0.01369 |
| GO Exome Sequencing Project | European American | Sub | 8600 | T=0.9807 | C=0.0193 |
| GO Exome Sequencing Project | African American | Sub | 4406 | T=0.9973 | C=0.0027 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.9941 | C=0.0059 |
| 1000Genomes_30x | African | Sub | 1786 | T=1.0000 | C=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.9818 | C=0.0182 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=1.0000 | C=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=1.0000 | C=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | T=0.985 | C=0.015 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.9946 | C=0.0054 |
| 1000Genomes | African | Sub | 1322 | T=1.0000 | C=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | T=1.0000 | C=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | T=0.9831 | C=0.0169 |
| 1000Genomes | South Asian | Sub | 978 | T=1.000 | C=0.000 |
| 1000Genomes | American | Sub | 694 | T=0.986 | C=0.014 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.9949 | C=0.0051 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.9844 | C=0.0156 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.9825 | C=0.0175 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | T=0.9876 | C=0.0124 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | T=0.989 | C=0.011 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 142 | T=0.993 | C=0.007 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | T=1.000 | C=0.000 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 106 | T=0.943 | C=0.057 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | T=1.00 | C=0.00 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | T=1.00 | C=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.974 | C=0.026 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.993 | C=0.007 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | T=0.972 | C=0.028 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | T=0.997 | C=0.003 |
| Qatari | Global | Study-wide | 216 | T=0.949 | C=0.051 |
| SGDP_PRJ | Global | Study-wide | 8 | T=0.5 | C=0.5 |
| Siberian | Global | Study-wide | 2 | T=0.5 | C=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 17 | NC_000017.11:g.7674892T>A |
| GRCh38.p14 chr 17 | NC_000017.11:g.7674892T>C |
| GRCh38.p14 chr 17 | NC_000017.11:g.7674892T>G |
| GRCh37.p13 chr 17 | NC_000017.10:g.7578210T>A |
| GRCh37.p13 chr 17 | NC_000017.10:g.7578210T>C |
| GRCh37.p13 chr 17 | NC_000017.10:g.7578210T>G |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.17659A>T |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.17659A>G |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.17659A>C |
Gene: TP53, tumor protein p53
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TP53 transcript variant 1 | NM_000546.6:c.639A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 1 | NM_000546.6:c.639A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 1 | NM_000546.6:c.639A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 1 | NM_001276760.3:c.522A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 1 | NM_001276760.3:c.522A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 1 | NM_001276760.3:c.522A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 2 | NM_001276761.3:c.522A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 2 | NM_001276761.3:c.522A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 2 | NM_001276761.3:c.522A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 7 | NM_001276699.3:c.162A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform l | NP_001263628.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 7 | NM_001276699.3:c.162A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform l | NP_001263628.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 7 | NM_001276699.3:c.162A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform l | NP_001263628.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 4 | NM_001276695.3:c.522A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform h | NP_001263624.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 4 | NM_001276695.3:c.522A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform h | NP_001263624.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 4 | NM_001276695.3:c.522A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform h | NP_001263624.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 3 | NM_001276696.3:c.522A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform i | NP_001263625.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 3 | NM_001276696.3:c.522A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform i | NP_001263625.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 3 | NM_001276696.3:c.522A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform i | NP_001263625.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 5 | NM_001276697.3:c.162A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 5 | NM_001276697.3:c.162A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 5 | NM_001276697.3:c.162A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 6 | NM_001276698.3:c.162A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform k | NP_001263627.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 6 | NM_001276698.3:c.162A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform k | NP_001263627.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 6 | NM_001276698.3:c.162A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform k | NP_001263627.1:p.Arg54= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 3 | NM_001126114.3:c.639A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform b | NP_001119586.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 3 | NM_001126114.3:c.639A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform b | NP_001119586.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 3 | NM_001126114.3:c.639A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform b | NP_001119586.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 4 | NM_001126113.3:c.639A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform c | NP_001119585.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 4 | NM_001126113.3:c.639A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform c | NP_001119585.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 4 | NM_001126113.3:c.639A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform c | NP_001119585.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 6 | NM_001126116.2:c.243A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform e | NP_001119588.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 6 | NM_001126116.2:c.243A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform e | NP_001119588.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 6 | NM_001126116.2:c.243A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform e | NP_001119588.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 2 | NM_001126112.3:c.639A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 2 | NM_001126112.3:c.639A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 2 | NM_001126112.3:c.639A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg213= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 8 | NM_001126118.2:c.522A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 8 | NM_001126118.2:c.522A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 8 | NM_001126118.2:c.522A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg174= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 5 | NM_001126115.2:c.243A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 5 | NM_001126115.2:c.243A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 5 | NM_001126115.2:c.243A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 7 | NM_001126117.2:c.243A>T | R [CGA] > R [CGT] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform f | NP_001119589.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 7 | NM_001126117.2:c.243A>G | R [CGA] > R [CGG] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform f | NP_001119589.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous Variant |
| TP53 transcript variant 7 | NM_001126117.2:c.243A>C | R [CGA] > R [CGC] | Coding Sequence Variant |
| cellular tumor antigen p53 isoform f | NP_001119589.1:p.Arg81= | R (Arg) > R (Arg) | Synonymous 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:
52760
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000036533.21 | not specified | Benign |
| RCV000162403.2 | Hereditary cancer-predisposing syndrome | Benign |
| RCV000203086.5 | Li-Fraumeni syndrome 1 | Benign |
| RCV000206135.12 | Li-Fraumeni syndrome | Benign |
| RCV001357034.2 | Malignant tumor of breast | Benign |
| RCV001572845.9 | not provided | 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 | T= | A | C | G |
|---|---|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.7674892= | NC_000017.11:g.7674892T>A | NC_000017.11:g.7674892T>C | NC_000017.11:g.7674892T>G |
| GRCh37.p13 chr 17 | NC_000017.10:g.7578210= | NC_000017.10:g.7578210T>A | NC_000017.10:g.7578210T>C | NC_000017.10:g.7578210T>G |
| TP53 RefSeqGene (LRG_321) | NG_017013.2:g.17659= | NG_017013.2:g.17659A>T | NG_017013.2:g.17659A>G | NG_017013.2:g.17659A>C |
| TP53 transcript variant 1 | NM_000546.6:c.639= | NM_000546.6:c.639A>T | NM_000546.6:c.639A>G | NM_000546.6:c.639A>C |
| TP53 transcript variant 1 | NM_000546.5:c.639= | NM_000546.5:c.639A>T | NM_000546.5:c.639A>G | NM_000546.5:c.639A>C |
| TP53 transcript variant 3 | NM_001276696.3:c.522= | NM_001276696.3:c.522A>T | NM_001276696.3:c.522A>G | NM_001276696.3:c.522A>C |
| TP53 transcript variant 3 | NM_001276696.2:c.522= | NM_001276696.2:c.522A>T | NM_001276696.2:c.522A>G | NM_001276696.2:c.522A>C |
| TP53 transcript variant 3 | NM_001276696.1:c.522= | NM_001276696.1:c.522A>T | NM_001276696.1:c.522A>G | NM_001276696.1:c.522A>C |
| TP53 transcript variant 3 | NM_001126114.3:c.639= | NM_001126114.3:c.639A>T | NM_001126114.3:c.639A>G | NM_001126114.3:c.639A>C |
| TP53 transcript variant 3 | NM_001126114.2:c.639= | NM_001126114.2:c.639A>T | NM_001126114.2:c.639A>G | NM_001126114.2:c.639A>C |
| TP53 transcript variant 4 | NM_001276695.3:c.522= | NM_001276695.3:c.522A>T | NM_001276695.3:c.522A>G | NM_001276695.3:c.522A>C |
| TP53 transcript variant 4 | NM_001276695.2:c.522= | NM_001276695.2:c.522A>T | NM_001276695.2:c.522A>G | NM_001276695.2:c.522A>C |
| TP53 transcript variant 4 | NM_001276695.1:c.522= | NM_001276695.1:c.522A>T | NM_001276695.1:c.522A>G | NM_001276695.1:c.522A>C |
| TP53 transcript variant 4 | NM_001126113.3:c.639= | NM_001126113.3:c.639A>T | NM_001126113.3:c.639A>G | NM_001126113.3:c.639A>C |
| TP53 transcript variant 4 | NM_001126113.2:c.639= | NM_001126113.2:c.639A>T | NM_001126113.2:c.639A>G | NM_001126113.2:c.639A>C |
| TP53 transcript variant 1 | NM_001276760.3:c.522= | NM_001276760.3:c.522A>T | NM_001276760.3:c.522A>G | NM_001276760.3:c.522A>C |
| TP53 transcript variant 1 | NM_001276760.2:c.522= | NM_001276760.2:c.522A>T | NM_001276760.2:c.522A>G | NM_001276760.2:c.522A>C |
| TP53 transcript variant 1 | NM_001276760.1:c.522= | NM_001276760.1:c.522A>T | NM_001276760.1:c.522A>G | NM_001276760.1:c.522A>C |
| TP53 transcript variant 2 | NM_001276761.3:c.522= | NM_001276761.3:c.522A>T | NM_001276761.3:c.522A>G | NM_001276761.3:c.522A>C |
| TP53 transcript variant 2 | NM_001276761.2:c.522= | NM_001276761.2:c.522A>T | NM_001276761.2:c.522A>G | NM_001276761.2:c.522A>C |
| TP53 transcript variant 2 | NM_001276761.1:c.522= | NM_001276761.1:c.522A>T | NM_001276761.1:c.522A>G | NM_001276761.1:c.522A>C |
| TP53 transcript variant 2 | NM_001126112.3:c.639= | NM_001126112.3:c.639A>T | NM_001126112.3:c.639A>G | NM_001126112.3:c.639A>C |
| TP53 transcript variant 2 | NM_001126112.2:c.639= | NM_001126112.2:c.639A>T | NM_001126112.2:c.639A>G | NM_001126112.2:c.639A>C |
| TP53 transcript variant 6 | NM_001276698.3:c.162= | NM_001276698.3:c.162A>T | NM_001276698.3:c.162A>G | NM_001276698.3:c.162A>C |
| TP53 transcript variant 6 | NM_001276698.2:c.162= | NM_001276698.2:c.162A>T | NM_001276698.2:c.162A>G | NM_001276698.2:c.162A>C |
| TP53 transcript variant 6 | NM_001276698.1:c.162= | NM_001276698.1:c.162A>T | NM_001276698.1:c.162A>G | NM_001276698.1:c.162A>C |
| TP53 transcript variant 7 | NM_001276699.3:c.162= | NM_001276699.3:c.162A>T | NM_001276699.3:c.162A>G | NM_001276699.3:c.162A>C |
| TP53 transcript variant 7 | NM_001276699.2:c.162= | NM_001276699.2:c.162A>T | NM_001276699.2:c.162A>G | NM_001276699.2:c.162A>C |
| TP53 transcript variant 7 | NM_001276699.1:c.162= | NM_001276699.1:c.162A>T | NM_001276699.1:c.162A>G | NM_001276699.1:c.162A>C |
| TP53 transcript variant 5 | NM_001276697.3:c.162= | NM_001276697.3:c.162A>T | NM_001276697.3:c.162A>G | NM_001276697.3:c.162A>C |
| TP53 transcript variant 5 | NM_001276697.2:c.162= | NM_001276697.2:c.162A>T | NM_001276697.2:c.162A>G | NM_001276697.2:c.162A>C |
| TP53 transcript variant 5 | NM_001276697.1:c.162= | NM_001276697.1:c.162A>T | NM_001276697.1:c.162A>G | NM_001276697.1:c.162A>C |
| TP53 transcript variant 8 | NM_001126118.2:c.522= | NM_001126118.2:c.522A>T | NM_001126118.2:c.522A>G | NM_001126118.2:c.522A>C |
| TP53 transcript variant 8 | NM_001126118.1:c.522= | NM_001126118.1:c.522A>T | NM_001126118.1:c.522A>G | NM_001126118.1:c.522A>C |
| TP53 transcript variant 6 | NM_001126116.2:c.243= | NM_001126116.2:c.243A>T | NM_001126116.2:c.243A>G | NM_001126116.2:c.243A>C |
| TP53 transcript variant 6 | NM_001126116.1:c.243= | NM_001126116.1:c.243A>T | NM_001126116.1:c.243A>G | NM_001126116.1:c.243A>C |
| TP53 transcript variant 7 | NM_001126117.2:c.243= | NM_001126117.2:c.243A>T | NM_001126117.2:c.243A>G | NM_001126117.2:c.243A>C |
| TP53 transcript variant 7 | NM_001126117.1:c.243= | NM_001126117.1:c.243A>T | NM_001126117.1:c.243A>G | NM_001126117.1:c.243A>C |
| TP53 transcript variant 5 | NM_001126115.2:c.243= | NM_001126115.2:c.243A>T | NM_001126115.2:c.243A>G | NM_001126115.2:c.243A>C |
| TP53 transcript variant 5 | NM_001126115.1:c.243= | NM_001126115.1:c.243A>T | NM_001126115.1:c.243A>G | NM_001126115.1:c.243A>C |
| TP53 transcript variant 13 | NM_001407271.1:c.522= | NM_001407271.1:c.522A>T | NM_001407271.1:c.522A>G | NM_001407271.1:c.522A>C |
| TP53 transcript variant 13 | NM_001407270.1:c.639= | NM_001407270.1:c.639A>T | NM_001407270.1:c.639A>G | NM_001407270.1:c.639A>C |
| TP53 transcript variant 12 | NM_001407269.1:c.522= | NM_001407269.1:c.522A>T | NM_001407269.1:c.522A>G | NM_001407269.1:c.522A>C |
| TP53 transcript variant 12 | NM_001407268.1:c.639= | NM_001407268.1:c.639A>T | NM_001407268.1:c.639A>G | NM_001407268.1:c.639A>C |
| TP53 transcript variant 9 | NM_001407263.1:c.522= | NM_001407263.1:c.522A>T | NM_001407263.1:c.522A>G | NM_001407263.1:c.522A>C |
| TP53 transcript variant 9 | NM_001407262.1:c.639= | NM_001407262.1:c.639A>T | NM_001407262.1:c.639A>G | NM_001407262.1:c.639A>C |
| TP53 transcript variant 11 | NM_001407267.1:c.522= | NM_001407267.1:c.522A>T | NM_001407267.1:c.522A>G | NM_001407267.1:c.522A>C |
| TP53 transcript variant 11 | NM_001407266.1:c.639= | NM_001407266.1:c.639A>T | NM_001407266.1:c.639A>G | NM_001407266.1:c.639A>C |
| TP53 transcript variant 10 | NM_001407265.1:c.522= | NM_001407265.1:c.522A>T | NM_001407265.1:c.522A>G | NM_001407265.1:c.522A>C |
| TP53 transcript variant 10 | NM_001407264.1:c.639= | NM_001407264.1:c.639A>T | NM_001407264.1:c.639A>G | NM_001407264.1:c.639A>C |
| cellular tumor antigen p53 isoform a | NP_000537.3:p.Arg213= | NP_000537.3:p.Arg213= | NP_000537.3:p.Arg213= | NP_000537.3:p.Arg213= |
| cellular tumor antigen p53 isoform i | NP_001263625.1:p.Arg174= | NP_001263625.1:p.Arg174= | NP_001263625.1:p.Arg174= | NP_001263625.1:p.Arg174= |
| cellular tumor antigen p53 isoform b | NP_001119586.1:p.Arg213= | NP_001119586.1:p.Arg213= | NP_001119586.1:p.Arg213= | NP_001119586.1:p.Arg213= |
| cellular tumor antigen p53 isoform h | NP_001263624.1:p.Arg174= | NP_001263624.1:p.Arg174= | NP_001263624.1:p.Arg174= | NP_001263624.1:p.Arg174= |
| cellular tumor antigen p53 isoform c | NP_001119585.1:p.Arg213= | NP_001119585.1:p.Arg213= | NP_001119585.1:p.Arg213= | NP_001119585.1:p.Arg213= |
| cellular tumor antigen p53 isoform g | NP_001263689.1:p.Arg174= | NP_001263689.1:p.Arg174= | NP_001263689.1:p.Arg174= | NP_001263689.1:p.Arg174= |
| cellular tumor antigen p53 isoform g | NP_001263690.1:p.Arg174= | NP_001263690.1:p.Arg174= | NP_001263690.1:p.Arg174= | NP_001263690.1:p.Arg174= |
| cellular tumor antigen p53 isoform a | NP_001119584.1:p.Arg213= | NP_001119584.1:p.Arg213= | NP_001119584.1:p.Arg213= | NP_001119584.1:p.Arg213= |
| cellular tumor antigen p53 isoform k | NP_001263627.1:p.Arg54= | NP_001263627.1:p.Arg54= | NP_001263627.1:p.Arg54= | NP_001263627.1:p.Arg54= |
| cellular tumor antigen p53 isoform l | NP_001263628.1:p.Arg54= | NP_001263628.1:p.Arg54= | NP_001263628.1:p.Arg54= | NP_001263628.1:p.Arg54= |
| cellular tumor antigen p53 isoform j | NP_001263626.1:p.Arg54= | NP_001263626.1:p.Arg54= | NP_001263626.1:p.Arg54= | NP_001263626.1:p.Arg54= |
| cellular tumor antigen p53 isoform g | NP_001119590.1:p.Arg174= | NP_001119590.1:p.Arg174= | NP_001119590.1:p.Arg174= | NP_001119590.1:p.Arg174= |
| cellular tumor antigen p53 isoform e | NP_001119588.1:p.Arg81= | NP_001119588.1:p.Arg81= | NP_001119588.1:p.Arg81= | NP_001119588.1:p.Arg81= |
| cellular tumor antigen p53 isoform f | NP_001119589.1:p.Arg81= | NP_001119589.1:p.Arg81= | NP_001119589.1:p.Arg81= | NP_001119589.1:p.Arg81= |
| cellular tumor antigen p53 isoform d | NP_001119587.1:p.Arg81= | NP_001119587.1:p.Arg81= | NP_001119587.1:p.Arg81= | NP_001119587.1:p.Arg81= |
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#.
74 SubSNP,
21 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2420450 | Nov 14, 2000 (89) |
| 2 | SNP500CANCER | ss12675669 | Feb 04, 2009 (130) |
| 3 | EGP_SNPS | ss32469471 | Dec 02, 2004 (126) |
| 4 | APPLERA_GI | ss48401998 | Mar 11, 2006 (126) |
| 5 | CANCER-GENOME | ss74801689 | Dec 07, 2007 (129) |
| 6 | CGM_KYOTO | ss76864483 | Dec 07, 2007 (129) |
| 7 | ILLUMINA | ss169099089 | Jul 04, 2010 (132) |
| 8 | BUSHMAN | ss202184395 | Jul 04, 2010 (132) |
| 9 | 1000GENOMES | ss237173872 | Jul 15, 2010 (132) |
| 10 | NHLBI-ESP | ss342443167 | May 09, 2011 (134) |
| 11 | ILLUMINA | ss479543858 | May 04, 2012 (137) |
| 12 | ILLUMINA | ss483681476 | May 04, 2012 (137) |
| 13 | 1000GENOMES | ss491115341 | May 04, 2012 (137) |
| 14 | CLINSEQ_SNP | ss491729175 | May 04, 2012 (137) |
| 15 | ILLUMINA | ss533076477 | Sep 08, 2015 (146) |
| 16 | ILLUMINA | ss779606421 | Sep 08, 2015 (146) |
| 17 | ILLUMINA | ss781007799 | Sep 08, 2015 (146) |
| 18 | ILLUMINA | ss835078534 | Sep 08, 2015 (146) |
| 19 | EVA-GONL | ss992899207 | Aug 21, 2014 (142) |
| 20 | JMKIDD_LAB | ss1067567546 | Aug 21, 2014 (142) |
| 21 | JMKIDD_LAB | ss1080914555 | Aug 21, 2014 (142) |
| 22 | 1000GENOMES | ss1357813360 | Aug 21, 2014 (142) |
| 23 | HAMMER_LAB | ss1397725691 | Sep 08, 2015 (146) |
| 24 | EVA_FINRISK | ss1584103858 | Apr 01, 2015 (144) |
| 25 | EVA_UK10K_ALSPAC | ss1635240384 | Apr 01, 2015 (144) |
| 26 | EVA_UK10K_TWINSUK | ss1678234417 | Apr 01, 2015 (144) |
| 27 | EVA_EXAC | ss1692579799 | Apr 01, 2015 (144) |
| 28 | EVA_DECODE | ss1696940006 | Apr 01, 2015 (144) |
| 29 | EVA_MGP | ss1711447005 | Apr 01, 2015 (144) |
| 30 | WEILL_CORNELL_DGM | ss1936345967 | Feb 12, 2016 (147) |
| 31 | GENOMED | ss1966658565 | Feb 12, 2016 (147) |
| 32 | JJLAB | ss2028961083 | Sep 14, 2016 (149) |
| 33 | USC_VALOUEV | ss2157408822 | Dec 20, 2016 (150) |
| 34 | HUMAN_LONGEVITY | ss2215319596 | Dec 20, 2016 (150) |
| 35 | ILLUMINA | ss2633372553 | Nov 08, 2017 (151) |
| 36 | ILLUMINA | ss2635068052 | Nov 08, 2017 (151) |
| 37 | GNOMAD | ss2742410396 | Nov 08, 2017 (151) |
| 38 | GNOMAD | ss2749679840 | Nov 08, 2017 (151) |
| 39 | GNOMAD | ss2947436279 | Nov 08, 2017 (151) |
| 40 | SWEGEN | ss3015157822 | Nov 08, 2017 (151) |
| 41 | ILLUMINA | ss3627620215 | Oct 12, 2018 (152) |
| 42 | ILLUMINA | ss3631355144 | Oct 12, 2018 (152) |
| 43 | ILLUMINA | ss3638148194 | Oct 12, 2018 (152) |
| 44 | ILLUMINA | ss3641982166 | Oct 12, 2018 (152) |
| 45 | EGCUT_WGS | ss3682123022 | Jul 13, 2019 (153) |
| 46 | EVA_DECODE | ss3700039754 | Jul 13, 2019 (153) |
| 47 | ACPOP | ss3741852654 | Jul 13, 2019 (153) |
| 48 | EVA | ss3825073919 | Apr 27, 2020 (154) |
| 49 | EVA | ss3825891638 | Apr 27, 2020 (154) |
| 50 | SGDP_PRJ | ss3885289725 | Apr 27, 2020 (154) |
| 51 | EVA | ss3983901676 | Apr 27, 2021 (155) |
| 52 | FSA-LAB | ss3984106873 | Apr 27, 2021 (155) |
| 53 | EVA | ss3986711512 | Apr 27, 2021 (155) |
| 54 | TOPMED | ss5028670825 | Apr 27, 2021 (155) |
| 55 | TOMMO_GENOMICS | ss5221389397 | Apr 27, 2021 (155) |
| 56 | CPQ_GEN_INCA | ss5236857886 | Apr 27, 2021 (155) |
| 57 | EVA | ss5237667944 | Oct 17, 2022 (156) |
| 58 | 1000G_HIGH_COVERAGE | ss5302344564 | Oct 17, 2022 (156) |
| 59 | EVA | ss5426241264 | Oct 17, 2022 (156) |
| 60 | HUGCELL_USP | ss5495527682 | Oct 17, 2022 (156) |
| 61 | 1000G_HIGH_COVERAGE | ss5605659495 | Oct 17, 2022 (156) |
| 62 | EVA | ss5623893853 | Oct 17, 2022 (156) |
| 63 | EVA | ss5623969823 | Oct 17, 2022 (156) |
| 64 | SANFORD_IMAGENETICS | ss5624391655 | Oct 17, 2022 (156) |
| 65 | SANFORD_IMAGENETICS | ss5659676699 | Oct 17, 2022 (156) |
| 66 | TOMMO_GENOMICS | ss5776954300 | Oct 17, 2022 (156) |
| 67 | EVA | ss5833689530 | Oct 17, 2022 (156) |
| 68 | EVA | ss5847470833 | Oct 17, 2022 (156) |
| 69 | EVA | ss5847787872 | Oct 17, 2022 (156) |
| 70 | EVA | ss5848440262 | Oct 17, 2022 (156) |
| 71 | EVA | ss5913134399 | Oct 17, 2022 (156) |
| 72 | EVA | ss5936276869 | Oct 17, 2022 (156) |
| 73 | EVA | ss5951086935 | Oct 17, 2022 (156) |
| 74 | EVA | ss5979499486 | Oct 17, 2022 (156) |
| 75 | 1000Genomes | NC_000017.10 - 7578210 | Oct 12, 2018 (152) |
| 76 | 1000Genomes_30x | NC_000017.11 - 7674892 | Oct 17, 2022 (156) |
| 77 | The Avon Longitudinal Study of Parents and Children | NC_000017.10 - 7578210 | Oct 12, 2018 (152) |
| 78 | Genome-wide autozygosity in Daghestan | NC_000017.9 - 7518935 | Apr 27, 2020 (154) |
| 79 | Genetic variation in the Estonian population | NC_000017.10 - 7578210 | Oct 12, 2018 (152) |
| 80 | ExAC | NC_000017.10 - 7578210 | Oct 12, 2018 (152) |
| 81 | FINRISK | NC_000017.10 - 7578210 | Apr 27, 2020 (154) |
| 82 | gnomAD - Genomes | NC_000017.11 - 7674892 | Apr 27, 2021 (155) |
| 83 | gnomAD - Exomes | NC_000017.10 - 7578210 | Jul 13, 2019 (153) |
| 84 | GO Exome Sequencing Project | NC_000017.10 - 7578210 | Oct 12, 2018 (152) |
| 85 | Genome of the Netherlands Release 5 | NC_000017.10 - 7578210 | Apr 27, 2020 (154) |
| 86 | Medical Genome Project healthy controls from Spanish population | NC_000017.10 - 7578210 | Apr 27, 2020 (154) |
| 87 | Northern Sweden | NC_000017.10 - 7578210 | Jul 13, 2019 (153) |
| 88 | Qatari | NC_000017.10 - 7578210 | Apr 27, 2020 (154) |
| 89 | SGDP_PRJ | NC_000017.10 - 7578210 | Apr 27, 2020 (154) |
| 90 | Siberian | NC_000017.10 - 7578210 | Apr 27, 2020 (154) |
| 91 | 8.3KJPN | NC_000017.10 - 7578210 | Apr 27, 2021 (155) |
| 92 | 14KJPN | NC_000017.11 - 7674892 | Oct 17, 2022 (156) |
| 93 | TopMed | NC_000017.11 - 7674892 | Apr 27, 2021 (155) |
| 94 | UK 10K study - Twins | NC_000017.10 - 7578210 | Oct 12, 2018 (152) |
| 95 | ALFA | NC_000017.11 - 7674892 | Apr 27, 2021 (155) |
| 96 | ClinVar | RCV000036533.21 | Oct 17, 2022 (156) |
| 97 | ClinVar | RCV000162403.2 | Oct 17, 2022 (156) |
| 98 | ClinVar | RCV000203086.5 | Oct 17, 2022 (156) |
| 99 | ClinVar | RCV000206135.12 | Oct 17, 2022 (156) |
| 100 | ClinVar | RCV001357034.2 | Oct 17, 2022 (156) |
| 101 | ClinVar | RCV001572845.9 | Oct 17, 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) |
|---|---|
| rs17884339 | Mar 11, 2006 (126) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss202184395 | NC_000017.9:7518934:T:A | NC_000017.11:7674891:T:A | (self) |
| ss5936276869 | NC_000017.10:7578209:T:A | NC_000017.11:7674891:T:A | |
| 195607, ss483681476, ss491729175, ss1397725691, ss1696940006, ss2635068052 | NC_000017.9:7518934:T:C | NC_000017.11:7674891:T:C | (self) |
| 71024023, 39391337, 27861270, 3007569, 100319, 11708469, 1531046, 17561110, 562765, 15137519, 18387889, 37306705, 9925176, 79358704, 39391337, ss237173872, ss342443167, ss479543858, ss491115341, ss533076477, ss779606421, ss781007799, ss835078534, ss992899207, ss1067567546, ss1080914555, ss1357813360, ss1584103858, ss1635240384, ss1678234417, ss1692579799, ss1711447005, ss1936345967, ss1966658565, ss2028961083, ss2157408822, ss2633372553, ss2742410396, ss2749679840, ss2947436279, ss3015157822, ss3627620215, ss3631355144, ss3638148194, ss3641982166, ss3682123022, ss3741852654, ss3825073919, ss3825891638, ss3885289725, ss3983901676, ss3984106873, ss3986711512, ss5221389397, ss5236857886, ss5426241264, ss5623893853, ss5623969823, ss5624391655, ss5659676699, ss5833689530, ss5847470833, ss5847787872, ss5848440262, ss5936276869, ss5951086935, ss5979499486 | NC_000017.10:7578209:T:C | NC_000017.11:7674891:T:C | (self) |
| RCV000036533.21, RCV000162403.2, RCV000203086.5, RCV000206135.12, RCV001357034.2, RCV001572845.9, 93185430, 500820057, 110791404, 244216487, 11452770865, ss2215319596, ss3700039754, ss5028670825, ss5237667944, ss5302344564, ss5495527682, ss5605659495, ss5776954300, ss5913134399 | NC_000017.11:7674891:T:C | NC_000017.11:7674891:T:C | (self) |
| ss2420450, ss12675669, ss32469471, ss48401998, ss74801689, ss76864483, ss169099089 | NT_010718.16:7181583:T:C | NC_000017.11:7674891:T:C | (self) |
| ss5936276869 | NC_000017.10:7578209:T:G | NC_000017.11:7674891:T:G |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
21
citations for rs1800372
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 10922393 | Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. | Portwine C et al. | 2000 | Journal of medical genetics |
| 15756275 | The R72P P53 mutation is associated with familial breast cancer in Jewish women. | Ohayon T et al. | 2005 | British journal of cancer |
| 17301252 | Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors. | Mechanic LE et al. | 2007 | Cancer epidemiology, biomarkers & prevention |
| 17436385 | Significance of genetic abnormalities of p53 protein in Slovenian patients with gastric carcinoma. | Juvan R et al. | 2007 | Croatian medical journal |
| 18798306 | Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population. | Pangilinan F et al. | 2008 | American journal of medical genetics. Part A |
| 18923929 | Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group. | Pilger DA et al. | 2007 | Genomic medicine |
| 20455025 | Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. | Robertson LB et al. | 2010 | Familial cancer |
| 22829934 | Assessment of TP53 mutations in benign and malignant salivary gland neoplasms. | Gomes CC et al. | 2012 | PloS one |
| 23757202 | Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. | Bean LJ et al. | 2013 | Human mutation |
| 24218030 | Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. | O'Brien KM et al. | 2014 | American journal of epidemiology |
| 24853176 | MGMT promoter hypermethylation and K-RAS, PTEN and TP53 mutations in tamoxifen-exposed and non-exposed endometrial cancer cases. | Nagy E et al. | 2014 | British journal of cancer |
| 25527155 | TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods. | Kantorova B et al. | 2015 | Tumour biology |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25896519 | Germline TP53 variants and susceptibility to osteosarcoma. | Mirabello L et al. | 2015 | Journal of the National Cancer Institute |
| 25925845 | Germline TP53 mutational spectrum in French Canadians with breast cancer. | Arcand SL et al. | 2015 | BMC medical genetics |
| 27957778 | Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk. | Samuel N et al. | 2017 | Human mutation |
| 28240049 | Deep sequencing of the TP53 gene reveals a potential risk allele for non-small cell lung cancer and supports the negative prognostic value of TP53 variants. | Deben C et al. | 2017 | Tumour biology |
| 28364582 | Clinical relevance of TP53 polymorphic genetic variations in chronic lymphocytic leukemia. | Bilous N et al. | 2017 | Leukemia research |
| 28373458 | Low Variability and Stable Frequency of Common Haplotypes of the TP53 Gene Region in Colorectal Cancer Patients in a Slovak Population. | Škereňová M et al. | 2017 | Anticancer research |
| 30796655 | Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors. | Aceto GM et al. | 2019 | Breast cancer research and treatment |
| 30867801 | Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico. | Uscanga-Perales GI et al. | 2019 | Oncology letters |
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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Help
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.