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rs121964878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964878(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position68822190
GeneCDH1
is asnp
is mentioned by
dbSNPrs121964878
ebirs121964878
HLIrs121964878
Exacrs121964878
Varsomers121964878
Maprs121964878
PheGenIrs121964878
hapmaprs121964878
1000 genomesrs121964878
hgdprs121964878
ensemblrs121964878
gopubmedrs121964878
geneviewrs121964878
scholarrs121964878
googlers121964878
pharmgkbrs121964878
gwascentralrs121964878
openSNPrs121964878
23andMers121964878
23andMe allrs121964878
SNP Nexus

SNPshotrs121964878
SNPdbers121964878
MSV3drs121964878
GWAS Ctlgrs121964878
Max Magnitude0

Also known as c.1901C>T, p.Ala634Val and A634V, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

OMIM192090
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121964878(T;T)
Alt rs121964878(T;T)
Reference rs121964878(C;C)
Significance Other
Disease Hereditary diffuse gastric cancer
Variation info
Gene CDH1
CLNDBN Hereditary diffuse gastric cancer
Reversed 0
HGVS NC_000016.9:g.68856093C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013031.23,