rs63749914
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs63749914(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47414381 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63749914 |
dbSNP (classic) | rs63749914 |
ClinGen | rs63749914 |
ebi | rs63749914 |
HLI | rs63749914 |
Exac | rs63749914 |
Gnomad | rs63749914 |
Varsome | rs63749914 |
LitVar | rs63749914 |
Map | rs63749914 |
PheGenI | rs63749914 |
Biobank | rs63749914 |
1000 genomes | rs63749914 |
hgdp | rs63749914 |
ensembl | rs63749914 |
geneview | rs63749914 |
scholar | rs63749914 |
rs63749914 | |
pharmgkb | rs63749914 |
gwascentral | rs63749914 |
openSNP | rs63749914 |
23andMe | rs63749914 |
SNPshot | rs63749914 |
SNPdbe | rs63749914 |
MSV3d | rs63749914 |
GWAS Ctlg | rs63749914 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63749914(A;A) rs63749914(C;C) |
Alt | rs63749914(A;A) rs63749914(C;C) |
Reference | Rs63749914(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47641520T>A; NC_000002.11:g.47641520T>C |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076747.2, RCV000412047.1, RCV000217750.1, |