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rs267606712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Hereditary cancer-predisposing syndrome; gastric cancer related?
Make rs267606712(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position68811859
GeneCDH1
is asnp
is mentioned by
dbSNPrs267606712
ebirs267606712
HLIrs267606712
Exacrs267606712
Varsomers267606712
Maprs267606712
PheGenIrs267606712
hapmaprs267606712
1000 genomesrs267606712
hgdprs267606712
ensemblrs267606712
gopubmedrs267606712
geneviewrs267606712
scholarrs267606712
googlers267606712
pharmgkbrs267606712
gwascentralrs267606712
openSNPrs267606712
23andMers267606712
23andMe allrs267606712
SNP Nexus

SNPshotrs267606712
SNPdbers267606712
MSV3drs267606712
GWAS Ctlgrs267606712
Max Magnitude5

Also known as c.1008G>T, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

ClinVar
Risk rs267606712(T;T)
Alt rs267606712(T;T)
Reference rs267606712(G;G)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Hereditary diffuse gastric cancer
Variation info
Gene CDH1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Hereditary diffuse gastric cancer
Reversed 0
HGVS NC_000016.9:g.68845762G>A; NC_000016.9:g.68845762G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000217412.1, RCV000013022.16,