rs34986638
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs34986638(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47478483 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs34986638 |
dbSNP (classic) | rs34986638 |
ClinGen | rs34986638 |
ebi | rs34986638 |
HLI | rs34986638 |
Exac | rs34986638 |
Gnomad | rs34986638 |
Varsome | rs34986638 |
LitVar | rs34986638 |
Map | rs34986638 |
PheGenI | rs34986638 |
Biobank | rs34986638 |
1000 genomes | rs34986638 |
hgdp | rs34986638 |
ensembl | rs34986638 |
geneview | rs34986638 |
scholar | rs34986638 |
rs34986638 | |
pharmgkb | rs34986638 |
gwascentral | rs34986638 |
openSNP | rs34986638 |
23andMe | rs34986638 |
SNPshot | rs34986638 |
SNPdbe | rs34986638 |
MSV3d | rs34986638 |
GWAS Ctlg | rs34986638 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs34986638(T;T) |
Alt | rs34986638(T;T) |
Reference | Rs34986638(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47705622G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076471.2, |