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rs121964874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964874(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position68823557
GeneCDH1
is asnp
is mentioned by
dbSNPrs121964874
ebirs121964874
HLIrs121964874
Exacrs121964874
Varsomers121964874
Maprs121964874
PheGenIrs121964874
hapmaprs121964874
1000 genomesrs121964874
hgdprs121964874
ensemblrs121964874
gopubmedrs121964874
geneviewrs121964874
scholarrs121964874
googlers121964874
pharmgkbrs121964874
gwascentralrs121964874
openSNPrs121964874
23andMers121964874
23andMe allrs121964874
SNP Nexus

SNPshotrs121964874
SNPdbers121964874
MSV3drs121964874
GWAS Ctlgrs121964874
Max Magnitude0

Also known as c.2095C>T or p.Gln699Ter, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

OMIM192090
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121964874(A,G,T;A,G,T)
Alt rs121964874(A,G,T;A,G,T)
Reference rs121964874(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer
Variation info
Gene CDH1
CLNDBN Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer
Reversed 0
HGVS NC_000016.9:g.68857460C>G; NC_000016.9:g.68857460C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132483.2, RCV000013024.24,