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rs587780113

From SNPedia

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


Make rs587780113(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position68815760
GeneCDH1
is asnp
is mentioned by
dbSNPrs587780113
dbSNP (classic)rs587780113
ClinGenrs587780113
ebirs587780113
HLIrs587780113
Exacrs587780113
Gnomadrs587780113
Varsomers587780113
LitVarrs587780113
Maprs587780113
PheGenIrs587780113
Biobankrs587780113
1000 genomesrs587780113
hgdprs587780113
ensemblrs587780113
geneviewrs587780113
scholarrs587780113
googlers587780113
pharmgkbrs587780113
gwascentralrs587780113
openSNPrs587780113
23andMers587780113
SNPshotrs587780113
SNPdbers587780113
MSV3drs587780113
GWAS Ctlgrs587780113
Max Magnitude6.7

Also known as c.1565+1G>A, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

ClinVar
Risk rs587780113(A;A) rs587780113(C;C) rs587780113(T;T)
Alt rs587780113(A;A) rs587780113(C;C) rs587780113(T;T)
Reference Rs587780113(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer not provided
Variation info
Gene CDH1
CLNDBN Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer not provided
Reversed 0
HGVS NC_000016.9:g.68849663G>A; NC_000016.9:g.68849663G>C; NC_000016.9:g.68849663G>T
CLNSRC
CLNACC RCV000115843.5, RCV000123238.2, RCV000212372.2, RCV000465857.1, RCV000129610.2,