rs587776398
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.7 | CDH1-based gastric cancer risk |
(T;T) | 0 | common in clinvar |
Make rs587776398(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 68812149 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776398 |
dbSNP (classic) | rs587776398 |
ClinGen | rs587776398 |
ebi | rs587776398 |
HLI | rs587776398 |
Exac | rs587776398 |
Gnomad | rs587776398 |
Varsome | rs587776398 |
LitVar | rs587776398 |
Map | rs587776398 |
PheGenI | rs587776398 |
Biobank | rs587776398 |
1000 genomes | rs587776398 |
hgdp | rs587776398 |
ensembl | rs587776398 |
geneview | rs587776398 |
scholar | rs587776398 |
rs587776398 | |
pharmgkb | rs587776398 |
gwascentral | rs587776398 |
openSNP | rs587776398 |
23andMe | rs587776398 |
SNPshot | rs587776398 |
SNPdbe | rs587776398 |
MSV3d | rs587776398 |
GWAS Ctlg | rs587776398 |
Max Magnitude | 6.7 |
Also known as c.1023T>G, p.Tyr341Ter or Y341X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs587776398(C;C) rs587776398(G;G) |
Alt | rs587776398(C;C) rs587776398(G;G) |
Reference | Rs587776398(T;T) |
Significance | Pathogenic |
Disease | Hereditary diffuse gastric cancer |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary diffuse gastric cancer |
Reversed | 0 |
HGVS | NC_000016.9:g.68846052T>C; NC_000016.9:g.68846052T>G |
CLNSRC | ClinVar |
CLNACC | RCV000229435.3, RCV000144456.1, |