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rs121964877

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964877(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position68822081
GeneCDH1
is asnp
is mentioned by
dbSNPrs121964877
ebirs121964877
HLIrs121964877
Exacrs121964877
Varsomers121964877
Maprs121964877
PheGenIrs121964877
hapmaprs121964877
1000 genomesrs121964877
hgdprs121964877
ensemblrs121964877
gopubmedrs121964877
geneviewrs121964877
scholarrs121964877
googlers121964877
pharmgkbrs121964877
gwascentralrs121964877
openSNPrs121964877
23andMers121964877
23andMe allrs121964877
SNP Nexus

SNPshotrs121964877
SNPdbers121964877
MSV3drs121964877
GWAS Ctlgrs121964877
Max Magnitude0

Also known as c.1792C>T, p.Arg598Ter and R598X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

OMIM192090
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121964877(T;T)
Alt rs121964877(T;T)
Reference rs121964877(C;C)
Significance Pathogenic
Disease Hereditary diffuse gastric cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene CDH1
CLNDBN Hereditary diffuse gastric cancer Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000016.9:g.68855984C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013028.24, RCV000213248.1,