Have questions? Visit https://www.reddit.com/r/SNPedia

rs876658932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Hereditary diffuse gastric cancer
Make rs876658932(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position68801726
GeneCDH1
is asnp
is mentioned by
dbSNPrs876658932
ebirs876658932
HLIrs876658932
Exacrs876658932
Varsomers876658932
Maprs876658932
PheGenIrs876658932
hapmaprs876658932
1000 genomesrs876658932
hgdprs876658932
ensemblrs876658932
gopubmedrs876658932
geneviewrs876658932
scholarrs876658932
googlers876658932
pharmgkbrs876658932
gwascentralrs876658932
openSNPrs876658932
23andMers876658932
23andMe allrs876658932
SNP Nexus

SNPshotrs876658932
SNPdbers876658932
MSV3drs876658932
GWAS Ctlgrs876658932
Max Magnitude5

Also known as c.220C>T, p.Arg74Ter or R74X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

ClinVar
Risk rs876658932(G;G)
Alt rs876658932(G;G)
Reference rs876658932(C;C)
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.68835629C>G; NC_000016.9:g.68835629C>T
CLNSRC
CLNACC RCV000218864.1, RCV000227616.1,