rs63750047
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 6 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47475066 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750047 |
dbSNP (classic) | rs63750047 |
ClinGen | rs63750047 |
ebi | rs63750047 |
HLI | rs63750047 |
Exac | rs63750047 |
Gnomad | rs63750047 |
Varsome | rs63750047 |
LitVar | rs63750047 |
Map | rs63750047 |
PheGenI | rs63750047 |
Biobank | rs63750047 |
1000 genomes | rs63750047 |
hgdp | rs63750047 |
ensembl | rs63750047 |
geneview | rs63750047 |
scholar | rs63750047 |
rs63750047 | |
pharmgkb | rs63750047 |
gwascentral | rs63750047 |
openSNP | rs63750047 |
23andMe | rs63750047 |
SNPshot | rs63750047 |
SNPdbe | rs63750047 |
MSV3d | rs63750047 |
GWAS Ctlg | rs63750047 |
Max Magnitude | 6 |
rs63750047 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 7713503]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]
See also OMIM 609309.0006
ClinVar | |
---|---|
Risk | Rs63750047(T;T) |
Alt | Rs63750047(T;T) |
Reference | Rs63750047(C;C) |
Significance | Pathogenic |
Disease | Muir-Torré syndrome Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Muir-Torré syndrome Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47702205C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001828.2, RCV000076290.2, RCV000428558.1, RCV000491732.1, |