rs267607924
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Likely miscall in 23andMe data; otherwise, Lynch syndrome, pathogenic mutation |
Make rs267607924(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47408556 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607924 |
dbSNP (classic) | rs267607924 |
ClinGen | rs267607924 |
ebi | rs267607924 |
HLI | rs267607924 |
Exac | rs267607924 |
Gnomad | rs267607924 |
Varsome | rs267607924 |
LitVar | rs267607924 |
Map | rs267607924 |
PheGenI | rs267607924 |
Biobank | rs267607924 |
1000 genomes | rs267607924 |
hgdp | rs267607924 |
ensembl | rs267607924 |
geneview | rs267607924 |
scholar | rs267607924 |
rs267607924 | |
pharmgkb | rs267607924 |
gwascentral | rs267607924 |
openSNP | rs267607924 |
23andMe | rs267607924 |
SNPshot | rs267607924 |
SNPdbe | rs267607924 |
MSV3d | rs267607924 |
GWAS Ctlg | rs267607924 |
Max Magnitude | 6 |
rs267607924, also known as c.366+1G>T and c.366+1G>A, is a variant in the MSH2 gene on chromosome 2.
In ClinVar, the rs267607924(T) variant is rated pathogenic for Lynch syndrome by an expert panel, and the rs267607924(A) variant is considered pathogenic (or likely to be pathogenic) as well.
ClinVar | |
---|---|
Risk | rs267607924(A;A) rs267607924(T;T) |
Alt | rs267607924(A;A) rs267607924(T;T) |
Reference | Rs267607924(G;G) |
Significance | Pathogenic |
Disease | not provided Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | not provided Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47635695G>A; NC_000002.11:g.47635695G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000236788.1, RCV000471120.1, RCV000076573.2, |