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.
rs3211299
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:47791097 (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
- G>A / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000942 (237/251476, GnomAD_exome)T=0.001379 (288/208862, ALFA)T=0.001576 (221/140226, GnomAD) (+ 10 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MSH6 : Missense Variant
- Publications
- 16 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 | 225274 | G=0.998659 | C=0.000000, T=0.001341 |
| European | Sub | 194428 | G=0.998550 | C=0.000000, T=0.001450 |
| African | Sub | 9790 | G=0.9997 | C=0.0000, T=0.0003 |
| African Others | Sub | 360 | G=1.000 | C=0.000, T=0.000 |
| African American | Sub | 9430 | G=0.9997 | C=0.0000, T=0.0003 |
| Asian | Sub | 3438 | G=1.0000 | C=0.0000, T=0.0000 |
| East Asian | Sub | 2756 | G=1.0000 | C=0.0000, T=0.0000 |
| Other Asian | Sub | 682 | G=1.000 | C=0.000, T=0.000 |
| Latin American 1 | Sub | 794 | G=1.000 | C=0.000, T=0.000 |
| Latin American 2 | Sub | 962 | G=1.000 | C=0.000, T=0.000 |
| South Asian | Sub | 280 | G=1.000 | C=0.000, T=0.000 |
| Other | Sub | 15582 | G=0.99891 | C=0.00000, T=0.00109 |
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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 251476 | G=0.999058 | T=0.000942 |
| gnomAD - Exomes | European | Sub | 135398 | G=0.998538 | T=0.001462 |
| gnomAD - Exomes | Asian | Sub | 49010 | G=1.00000 | T=0.00000 |
| gnomAD - Exomes | American | Sub | 34592 | G=0.99919 | T=0.00081 |
| gnomAD - Exomes | African | Sub | 16256 | G=0.99963 | T=0.00037 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | G=1.00000 | T=0.00000 |
| gnomAD - Exomes | Other | Sub | 6140 | G=0.9992 | T=0.0008 |
| Allele Frequency Aggregator | Total | Global | 208862 | G=0.998621 | C=0.000000, T=0.001379 |
| Allele Frequency Aggregator | European | Sub | 184288 | G=0.998529 | C=0.000000, T=0.001471 |
| Allele Frequency Aggregator | Other | Sub | 14148 | G=0.99887 | C=0.00000, T=0.00113 |
| Allele Frequency Aggregator | African | Sub | 4952 | G=0.9998 | C=0.0000, T=0.0002 |
| Allele Frequency Aggregator | Asian | Sub | 3438 | G=1.0000 | C=0.0000, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 962 | G=1.000 | C=0.000, T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 794 | G=1.000 | C=0.000, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 280 | G=1.000 | C=0.000, T=0.000 |
| gnomAD - Genomes | Global | Study-wide | 140226 | G=0.998424 | T=0.001576 |
| gnomAD - Genomes | European | Sub | 75946 | G=0.99817 | T=0.00183 |
| gnomAD - Genomes | African | Sub | 42030 | G=0.99962 | T=0.00038 |
| gnomAD - Genomes | American | Sub | 13644 | G=0.99575 | T=0.00425 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | G=1.0000 | T=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3134 | G=1.0000 | T=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.9963 | T=0.0037 |
| ExAC | Global | Study-wide | 121352 | G=0.999102 | T=0.000898 |
| ExAC | Europe | Sub | 73336 | G=0.99868 | T=0.00132 |
| ExAC | Asian | Sub | 25160 | G=1.00000 | T=0.00000 |
| ExAC | American | Sub | 11572 | G=0.99931 | T=0.00069 |
| ExAC | African | Sub | 10376 | G=0.99961 | T=0.00039 |
| ExAC | Other | Sub | 908 | G=1.000 | T=0.000 |
| The PAGE Study | Global | Study-wide | 78696 | G=0.99808 | T=0.00192 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | G=0.99969 | T=0.00031 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.99926 | T=0.00074 |
| The PAGE Study | Asian | Sub | 8318 | G=1.0000 | T=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.9875 | T=0.0125 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | G=0.9989 | T=0.0011 |
| The PAGE Study | Cuban | Sub | 4228 | G=0.9986 | T=0.0014 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.9971 | T=0.0029 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.9988 | T=0.0012 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.9980 | T=0.0020 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.9960 | T=0.0040 |
| The PAGE Study | SouthAsian | Sub | 856 | G=1.000 | T=0.000 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | G=0.99900 | T=0.00100 |
| GO Exome Sequencing Project | European American | Sub | 8600 | G=0.9986 | T=0.0014 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.9998 | T=0.0002 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.9975 | T=0.0025 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9983 | T=0.0017 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.9953 | T=0.0047 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=1.0000 | T=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=1.0000 | T=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | G=0.993 | T=0.007 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9976 | T=0.0024 |
| 1000Genomes | African | Sub | 1322 | G=0.9977 | T=0.0023 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.0000 | T=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | G=0.9950 | T=0.0050 |
| 1000Genomes | South Asian | Sub | 978 | G=1.000 | T=0.000 |
| 1000Genomes | American | Sub | 694 | G=0.994 | T=0.006 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.9998 | T=0.0002 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.9969 | T=0.0031 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9978 | T=0.0022 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.998 | T=0.002 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.998 | T=0.002 |
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 2 | NC_000002.12:g.47791097G>A |
| GRCh38.p14 chr 2 | NC_000002.12:g.47791097G>C |
| GRCh38.p14 chr 2 | NC_000002.12:g.47791097G>T |
| GRCh37.p13 chr 2 | NC_000002.11:g.48018236G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.48018236G>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.48018236G>T |
| MSH6 RefSeqGene (LRG_219) | NG_007111.1:g.12951G>A |
| MSH6 RefSeqGene (LRG_219) | NG_007111.1:g.12951G>C |
| MSH6 RefSeqGene (LRG_219) | NG_007111.1:g.12951G>T |
Gene: MSH6, mutS homolog 6
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MSH6 transcript variant 2 |
NM_001281492.2:c.238-7514… NM_001281492.2:c.238-7514G>A |
N/A | Intron Variant |
| MSH6 transcript variant 4 | NM_001281494.2:c.-472= | N/A | 5 Prime UTR Variant |
| MSH6 transcript variant 3 | NM_001281493.2:c.-306= | N/A | 5 Prime UTR Variant |
| MSH6 transcript variant 1 | NM_000179.3:c.431G>A | S [AGC] > N [AAC] | Coding Sequence Variant |
| DNA mismatch repair protein Msh6 isoform 1 | NP_000170.1:p.Ser144Asn | S (Ser) > N (Asn) | Missense Variant |
| MSH6 transcript variant 1 | NM_000179.3:c.431G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| DNA mismatch repair protein Msh6 isoform 1 | NP_000170.1:p.Ser144Thr | S (Ser) > T (Thr) | Missense Variant |
| MSH6 transcript variant 1 | NM_000179.3:c.431G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA mismatch repair protein Msh6 isoform 1 | NP_000170.1:p.Ser144Ile | S (Ser) > I (Ile) | 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: T (allele ID:
50035
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000034501.16 | not provided | Benign-Likely-Benign |
| RCV000074988.6 | Lynch syndrome | Benign |
| RCV000121570.19 | not specified | Benign-Likely-Benign |
| RCV000130532.7 | Hereditary cancer-predisposing syndrome | Benign-Likely-Benign |
| RCV000148642.3 | Colorectal cancer, non-polyposis | Likely-Benign |
| RCV000606030.9 | Colorectal cancer, hereditary nonpolyposis, type 5 | Conflicting-Interpretations-Of-Pathogenicity |
| RCV001081952.6 | Hereditary nonpolyposis colorectal neoplasms | Benign |
| RCV001198193.2 | Endometrial carcinoma | Uncertain-Significance |
| RCV001353551.2 | Carcinoma of colon | Likely-Benign |
| RCV001798061.2 | Breast and/or ovarian cancer | Uncertain-Significance |
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 | G= | A | C | T |
|---|---|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.47791097= | NC_000002.12:g.47791097G>A | NC_000002.12:g.47791097G>C | NC_000002.12:g.47791097G>T |
| GRCh37.p13 chr 2 | NC_000002.11:g.48018236= | NC_000002.11:g.48018236G>A | NC_000002.11:g.48018236G>C | NC_000002.11:g.48018236G>T |
| MSH6 RefSeqGene (LRG_219) | NG_007111.1:g.12951= | NG_007111.1:g.12951G>A | NG_007111.1:g.12951G>C | NG_007111.1:g.12951G>T |
| MSH6 transcript variant 1 | NM_000179.3:c.431= | NM_000179.3:c.431G>A | NM_000179.3:c.431G>C | NM_000179.3:c.431G>T |
| MSH6 transcript variant 1 | NM_000179.2:c.431= | NM_000179.2:c.431G>A | NM_000179.2:c.431G>C | NM_000179.2:c.431G>T |
| MSH6 transcript variant 3 | NM_001281493.2:c.-306= | NM_001281493.2:c.-306G>A | NM_001281493.2:c.-306G>C | NM_001281493.2:c.-306G>T |
| MSH6 transcript variant 3 | NM_001281493.1:c.-306= | NM_001281493.1:c.-306G>A | NM_001281493.1:c.-306G>C | NM_001281493.1:c.-306G>T |
| MSH6 transcript variant 4 | NM_001281494.2:c.-472= | NM_001281494.2:c.-472G>A | NM_001281494.2:c.-472G>C | NM_001281494.2:c.-472G>T |
| MSH6 transcript variant 4 | NM_001281494.1:c.-472= | NM_001281494.1:c.-472G>A | NM_001281494.1:c.-472G>C | NM_001281494.1:c.-472G>T |
| MSH6 transcript variant 21 | NM_001406830.1:c.134= | NM_001406830.1:c.134G>A | NM_001406830.1:c.134G>C | NM_001406830.1:c.134G>T |
| MSH6 transcript variant 29 | NM_001406807.1:c.-498= | NM_001406807.1:c.-498G>A | NM_001406807.1:c.-498G>C | NM_001406807.1:c.-498G>T |
| MSH6 transcript variant 45 | NR_176257.1:n.520= | NR_176257.1:n.520G>A | NR_176257.1:n.520G>C | NR_176257.1:n.520G>T |
| MSH6 transcript variant 13 | NM_001406826.1:c.263= | NM_001406826.1:c.263G>A | NM_001406826.1:c.263G>C | NM_001406826.1:c.263G>T |
| MSH6 transcript variant 47 | NR_176258.1:n.520= | NR_176258.1:n.520G>A | NR_176258.1:n.520G>C | NR_176258.1:n.520G>T |
| MSH6 transcript variant 5 | NM_001406795.1:c.527= | NM_001406795.1:c.527G>A | NM_001406795.1:c.527G>C | NM_001406795.1:c.527G>T |
| MSH6 transcript variant 38 | NM_001406814.1:c.-564= | NM_001406814.1:c.-564G>A | NM_001406814.1:c.-564G>C | NM_001406814.1:c.-564G>T |
| MSH6 transcript variant 46 | NR_176259.1:n.520= | NR_176259.1:n.520G>A | NR_176259.1:n.520G>C | NR_176259.1:n.520G>T |
| MSH6 transcript variant 6 | NM_001406813.1:c.431= | NM_001406813.1:c.431G>A | NM_001406813.1:c.431G>C | NM_001406813.1:c.431G>T |
| MSH6 transcript variant 10 | NM_001406808.1:c.431= | NM_001406808.1:c.431G>A | NM_001406808.1:c.431G>C | NM_001406808.1:c.431G>T |
| MSH6 transcript variant 12 | NM_001406800.1:c.431= | NM_001406800.1:c.431G>A | NM_001406800.1:c.431G>C | NM_001406800.1:c.431G>T |
| MSH6 transcript variant 11 | NM_001406804.1:c.353= | NM_001406804.1:c.353G>A | NM_001406804.1:c.353G>C | NM_001406804.1:c.353G>T |
| MSH6 transcript variant 9 | NM_001406796.1:c.431= | NM_001406796.1:c.431G>A | NM_001406796.1:c.431G>C | NM_001406796.1:c.431G>T |
| MSH6 transcript variant 8 | NM_001406809.1:c.431= | NM_001406809.1:c.431G>A | NM_001406809.1:c.431G>C | NM_001406809.1:c.431G>T |
| MSH6 transcript variant 22 | NM_001406825.1:c.134= | NM_001406825.1:c.134G>A | NM_001406825.1:c.134G>C | NM_001406825.1:c.134G>T |
| MSH6 transcript variant 14 | NM_001406802.1:c.527= | NM_001406802.1:c.527G>A | NM_001406802.1:c.527G>C | NM_001406802.1:c.527G>T |
| MSH6 transcript variant 42 | NR_176261.1:n.520= | NR_176261.1:n.520G>A | NR_176261.1:n.520G>C | NR_176261.1:n.520G>T |
| MSH6 transcript variant 26 | NM_001406818.1:c.134= | NM_001406818.1:c.134G>A | NM_001406818.1:c.134G>C | NM_001406818.1:c.134G>T |
| MSH6 transcript variant 15 | NM_001406798.1:c.431= | NM_001406798.1:c.431G>A | NM_001406798.1:c.431G>C | NM_001406798.1:c.431G>T |
| MSH6 transcript variant 24 | NM_001406819.1:c.134= | NM_001406819.1:c.134G>A | NM_001406819.1:c.134G>C | NM_001406819.1:c.134G>T |
| MSH6 transcript variant 23 | NM_001406824.1:c.134= | NM_001406824.1:c.134G>A | NM_001406824.1:c.134G>C | NM_001406824.1:c.134G>T |
| MSH6 transcript variant 27 | NM_001406822.1:c.134= | NM_001406822.1:c.134G>A | NM_001406822.1:c.134G>C | NM_001406822.1:c.134G>T |
| MSH6 transcript variant 7 | NM_001406811.1:c.-306= | NM_001406811.1:c.-306G>A | NM_001406811.1:c.-306G>C | NM_001406811.1:c.-306G>T |
| MSH6 transcript variant 18 | NM_001406821.1:c.134= | NM_001406821.1:c.134G>A | NM_001406821.1:c.134G>C | NM_001406821.1:c.134G>T |
| MSH6 transcript variant 25 | NM_001406797.1:c.134= | NM_001406797.1:c.134G>A | NM_001406797.1:c.134G>C | NM_001406797.1:c.134G>T |
| MSH6 transcript variant 20 | NM_001406827.1:c.134= | NM_001406827.1:c.134G>A | NM_001406827.1:c.134G>C | NM_001406827.1:c.134G>T |
| MSH6 transcript variant 28 | NM_001406801.1:c.134= | NM_001406801.1:c.134G>A | NM_001406801.1:c.134G>C | NM_001406801.1:c.134G>T |
| MSH6 transcript variant 17 | NM_001406820.1:c.134= | NM_001406820.1:c.134G>A | NM_001406820.1:c.134G>C | NM_001406820.1:c.134G>T |
| MSH6 transcript variant 19 | NM_001406805.1:c.134= | NM_001406805.1:c.134G>A | NM_001406805.1:c.134G>C | NM_001406805.1:c.134G>T |
| MSH6 transcript variant 43 | NM_001406828.1:c.134= | NM_001406828.1:c.134G>A | NM_001406828.1:c.134G>C | NM_001406828.1:c.134G>T |
| MSH6 transcript variant 37 | NM_001406829.1:c.-306= | NM_001406829.1:c.-306G>A | NM_001406829.1:c.-306G>C | NM_001406829.1:c.-306G>T |
| MSH6 transcript variant 36 | NM_001406823.1:c.-306= | NM_001406823.1:c.-306G>A | NM_001406823.1:c.-306G>C | NM_001406823.1:c.-306G>T |
| MSH6 transcript variant 32 | NM_001406803.1:c.431= | NM_001406803.1:c.431G>A | NM_001406803.1:c.431G>C | NM_001406803.1:c.431G>T |
| MSH6 transcript variant 44 | NR_176256.1:n.520= | NR_176256.1:n.520G>A | NR_176256.1:n.520G>C | NR_176256.1:n.520G>T |
| MSH6 transcript variant 40 | NM_001406817.1:c.431= | NM_001406817.1:c.431G>A | NM_001406817.1:c.431G>C | NM_001406817.1:c.431G>T |
| MSH6 transcript variant 41 | NM_001407362.1:c.431= | NM_001407362.1:c.431G>A | NM_001407362.1:c.431G>C | NM_001407362.1:c.431G>T |
| MSH6 transcript variant 41 | NR_176260.1:n.520= | NR_176260.1:n.520G>A | NR_176260.1:n.520G>C | NR_176260.1:n.520G>T |
| DNA mismatch repair protein Msh6 isoform 1 | NP_000170.1:p.Ser144= | NP_000170.1:p.Ser144Asn | NP_000170.1:p.Ser144Thr | NP_000170.1:p.Ser144Ile |
| MSH6 transcript variant 2 | NM_001281492.1:c.238-7514= | NM_001281492.1:c.238-7514G>A | NM_001281492.1:c.238-7514G>C | NM_001281492.1:c.238-7514G>T |
| MSH6 transcript variant 2 | NM_001281492.2:c.238-7514= | NM_001281492.2:c.238-7514G>A | NM_001281492.2:c.238-7514G>C | NM_001281492.2:c.238-7514G>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#.
61 SubSNP,
15 Frequency,
10 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | 1000GENOMES | ss329601585 | May 09, 2011 (134) |
| 2 | NHLBI-ESP | ss342059119 | May 09, 2011 (134) |
| 3 | 1000GENOMES | ss489815232 | May 04, 2012 (137) |
| 4 | EXOME_CHIP | ss491318697 | May 04, 2012 (137) |
| 5 | MMR_WOODS | ss538294643 | Oct 24, 2012 (137) |
| 6 | ILLUMINA | ss780777474 | Sep 08, 2015 (146) |
| 7 | ILLUMINA | ss783457517 | Sep 08, 2015 (146) |
| 8 | EVA-GONL | ss976788863 | Aug 21, 2014 (142) |
| 9 | 1000GENOMES | ss1297064486 | Aug 21, 2014 (142) |
| 10 | EVA_DECODE | ss1586199172 | Apr 01, 2015 (144) |
| 11 | EVA_UK10K_ALSPAC | ss1603424525 | Apr 01, 2015 (144) |
| 12 | EVA_UK10K_TWINSUK | ss1646418558 | Apr 01, 2015 (144) |
| 13 | EVA_EXAC | ss1686300587 | Apr 01, 2015 (144) |
| 14 | EVA_MGP | ss1710962480 | Apr 01, 2015 (144) |
| 15 | ILLUMINA | ss1752359383 | Sep 08, 2015 (146) |
| 16 | ILLUMINA | ss1917749017 | Feb 12, 2016 (147) |
| 17 | ILLUMINA | ss1946039762 | Feb 12, 2016 (147) |
| 18 | ILLUMINA | ss1946039763 | Feb 12, 2016 (147) |
| 19 | ILLUMINA | ss1958415281 | Feb 12, 2016 (147) |
| 20 | ILLUMINA | ss1958415282 | Feb 12, 2016 (147) |
| 21 | HUMAN_LONGEVITY | ss2229920168 | Dec 20, 2016 (150) |
| 22 | ILLUMINA | ss2710899830 | Nov 08, 2017 (151) |
| 23 | GNOMAD | ss2732653671 | Nov 08, 2017 (151) |
| 24 | GNOMAD | ss2746676862 | Nov 08, 2017 (151) |
| 25 | GNOMAD | ss2772977423 | Nov 08, 2017 (151) |
| 26 | ILLUMINA | ss3021968323 | Nov 08, 2017 (151) |
| 27 | ILLUMINA | ss3021968324 | Nov 08, 2017 (151) |
| 28 | ILLUMINA | ss3625754035 | Oct 11, 2018 (152) |
| 29 | ILLUMINA | ss3628056113 | Oct 11, 2018 (152) |
| 30 | ILLUMINA | ss3634764850 | Oct 11, 2018 (152) |
| 31 | ILLUMINA | ss3640472152 | Oct 11, 2018 (152) |
| 32 | ILLUMINA | ss3644742487 | Oct 11, 2018 (152) |
| 33 | ILLUMINA | ss3644742488 | Oct 11, 2018 (152) |
| 34 | ILLUMINA | ss3652399934 | Oct 11, 2018 (152) |
| 35 | ILLUMINA | ss3652399935 | Oct 11, 2018 (152) |
| 36 | ILLUMINA | ss3653938213 | Oct 11, 2018 (152) |
| 37 | EGCUT_WGS | ss3657404088 | Jul 13, 2019 (153) |
| 38 | EVA_DECODE | ss3703809190 | Jul 13, 2019 (153) |
| 39 | ILLUMINA | ss3725782623 | Jul 13, 2019 (153) |
| 40 | ILLUMINA | ss3744175198 | Jul 13, 2019 (153) |
| 41 | ILLUMINA | ss3744475004 | Jul 13, 2019 (153) |
| 42 | ILLUMINA | ss3745064758 | Jul 13, 2019 (153) |
| 43 | PAGE_CC | ss3770917115 | Jul 13, 2019 (153) |
| 44 | ILLUMINA | ss3772561595 | Jul 13, 2019 (153) |
| 45 | EVA | ss3823767938 | Apr 25, 2020 (154) |
| 46 | EVA | ss3986180326 | Apr 26, 2021 (155) |
| 47 | TOPMED | ss4504132796 | Apr 26, 2021 (155) |
| 48 | TOPMED | ss4504132797 | Apr 26, 2021 (155) |
| 49 | 1000G_HIGH_COVERAGE | ss5247911768 | Oct 12, 2022 (156) |
| 50 | EVA | ss5328651584 | Oct 12, 2022 (156) |
| 51 | HUGCELL_USP | ss5448130140 | Oct 12, 2022 (156) |
| 52 | 1000G_HIGH_COVERAGE | ss5523042710 | Oct 12, 2022 (156) |
| 53 | SANFORD_IMAGENETICS | ss5624444344 | Oct 12, 2022 (156) |
| 54 | SANFORD_IMAGENETICS | ss5628657694 | Oct 12, 2022 (156) |
| 55 | EVA | ss5820041409 | Oct 12, 2022 (156) |
| 56 | EVA | ss5847866729 | Oct 12, 2022 (156) |
| 57 | EVA | ss5848513811 | Oct 12, 2022 (156) |
| 58 | EVA | ss5930189025 | Oct 12, 2022 (156) |
| 59 | EVA | ss5935570469 | Oct 12, 2022 (156) |
| 60 | EVA | ss5954880478 | Oct 12, 2022 (156) |
| 61 | EVA | ss5979565900 | Oct 12, 2022 (156) |
| 62 | 1000Genomes | NC_000002.11 - 48018236 | Oct 11, 2018 (152) |
| 63 | 1000Genomes_30x | NC_000002.12 - 47791097 | Oct 12, 2022 (156) |
| 64 | The Avon Longitudinal Study of Parents and Children | NC_000002.11 - 48018236 | Oct 11, 2018 (152) |
| 65 | Genetic variation in the Estonian population | NC_000002.11 - 48018236 | Oct 11, 2018 (152) |
| 66 | ExAC | NC_000002.11 - 48018236 | Oct 11, 2018 (152) |
| 67 | gnomAD - Genomes | NC_000002.12 - 47791097 | Apr 26, 2021 (155) |
| 68 | gnomAD - Exomes | NC_000002.11 - 48018236 | Jul 13, 2019 (153) |
| 69 | GO Exome Sequencing Project | NC_000002.11 - 48018236 | Oct 11, 2018 (152) |
| 70 | Genome of the Netherlands Release 5 | NC_000002.11 - 48018236 | Apr 25, 2020 (154) |
| 71 | Medical Genome Project healthy controls from Spanish population | NC_000002.11 - 48018236 | Apr 25, 2020 (154) |
| 72 | The PAGE Study | NC_000002.12 - 47791097 | Jul 13, 2019 (153) |
| 73 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 74 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 75 | UK 10K study - Twins | NC_000002.11 - 48018236 | Oct 11, 2018 (152) |
| 76 | ALFA | NC_000002.12 - 47791097 | Apr 26, 2021 (155) |
| 77 | ClinVar | RCV000034501.16 | Oct 12, 2022 (156) |
| 78 | ClinVar | RCV000074988.6 | Oct 12, 2022 (156) |
| 79 | ClinVar | RCV000121570.19 | Oct 12, 2022 (156) |
| 80 | ClinVar | RCV000130532.7 | Oct 12, 2022 (156) |
| 81 | ClinVar | RCV000148642.3 | Oct 12, 2022 (156) |
| 82 | ClinVar | RCV000606030.9 | Oct 12, 2022 (156) |
| 83 | ClinVar | RCV001081952.6 | Oct 12, 2022 (156) |
| 84 | ClinVar | RCV001198193.2 | Oct 12, 2022 (156) |
| 85 | ClinVar | RCV001353551.2 | Oct 12, 2022 (156) |
| 86 | ClinVar | RCV001798061.2 | Oct 12, 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) |
|---|---|
| rs17415057 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5935570469 | NC_000002.11:48018235:G:A | NC_000002.12:47791096:G:A | |
| ss5935570469 | NC_000002.11:48018235:G:C | NC_000002.12:47791096:G:C | |
| 1979780576, ss4504132796 | NC_000002.12:47791096:G:C | NC_000002.12:47791096:G:C | (self) |
| ss1586199172 | NC_000002.10:47871739:G:T | NC_000002.12:47791096:G:T | (self) |
| 8003764, 4447658, 3142336, 6170254, 1702039, 226402, 1953733, 79232, 4447658, ss329601585, ss342059119, ss489815232, ss491318697, ss780777474, ss783457517, ss976788863, ss1297064486, ss1603424525, ss1646418558, ss1686300587, ss1710962480, ss1752359383, ss1917749017, ss1946039762, ss1946039763, ss1958415281, ss1958415282, ss2710899830, ss2732653671, ss2746676862, ss2772977423, ss3021968323, ss3021968324, ss3625754035, ss3628056113, ss3634764850, ss3640472152, ss3644742487, ss3644742488, ss3652399934, ss3652399935, ss3653938213, ss3657404088, ss3744175198, ss3744475004, ss3745064758, ss3772561595, ss3823767938, ss3986180326, ss5328651584, ss5624444344, ss5628657694, ss5820041409, ss5847866729, ss5848513811, ss5935570469, ss5954880478, ss5979565900 | NC_000002.11:48018235:G:T | NC_000002.12:47791096:G:T | (self) |
| RCV000034501.16, RCV000074988.6, RCV000121570.19, RCV000130532.7, RCV000148642.3, RCV000606030.9, RCV001081952.6, RCV001198193.2, RCV001353551.2, RCV001798061.2, 10568645, 56797418, 138584, 1979780576, ss538294643, ss2229920168, ss3703809190, ss3725782623, ss3770917115, ss4504132797, ss5247911768, ss5448130140, ss5523042710, ss5930189025 | NC_000002.12:47791096:G:T | NC_000002.12:47791096:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
16
citations for rs3211299
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 10537275 | Germ-line msh6 mutations in colorectal cancer families. | Kolodner RD et al. | 1999 | Cancer research |
| 12019211 | Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. | Kariola R et al. | 2002 | Human molecular genetics |
| 16203774 | High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. | Woods MO et al. | 2005 | Clinical cancer research |
| 16636019 | Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer. | Niessen RC et al. | 2006 | Gut |
| 18033691 | Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. | Barnetson RA et al. | 2008 | Human mutation |
| 18566915 | Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. | Nilbert M et al. | 2009 | Familial cancer |
| 18790734 | Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. | Cyr JL et al. | 2008 | The Journal of biological chemistry |
| 19389263 | Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach. | Doss CG et al. | 2009 | Journal of biomedical science |
| 22102614 | A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | Drost M et al. | 2012 | Human mutation |
| 22495361 | MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. | Okkels H et al. | 2012 | Applied immunohistochemistry & molecular morphology |
| 22703879 | Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | Johnston JJ et al. | 2012 | American journal of human genetics |
| 23523604 | Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays. | Pérez-Cabornero L et al. | 2013 | The Journal of molecular diagnostics |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24728327 | Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL et al. | 2014 | PloS one |
| 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 |
| 26811195 | Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families. | Talseth-Palmer BA et al. | 2016 | Cancer medicine |
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.