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rs587776398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6.7 CDH1-based gastric cancer risk
(T;T) 0 common in clinvar


Make rs587776398(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position68812149
GeneCDH1
is asnp
is mentioned by
dbSNPrs587776398
dbSNP (classic)rs587776398
ClinGenrs587776398
ebirs587776398
HLIrs587776398
Exacrs587776398
Gnomadrs587776398
Varsomers587776398
LitVarrs587776398
Maprs587776398
PheGenIrs587776398
Biobankrs587776398
1000 genomesrs587776398
hgdprs587776398
ensemblrs587776398
geneviewrs587776398
scholarrs587776398
googlers587776398
pharmgkbrs587776398
gwascentralrs587776398
openSNPrs587776398
23andMers587776398
SNPshotrs587776398
SNPdbers587776398
MSV3drs587776398
GWAS Ctlgrs587776398
Max Magnitude6.7

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,