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rs121964875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs121964875(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position68738307
GeneCDH1
is asnp
is mentioned by
dbSNPrs121964875
ebirs121964875
HLIrs121964875
Exacrs121964875
Varsomers121964875
Maprs121964875
PheGenIrs121964875
hapmaprs121964875
1000 genomesrs121964875
hgdprs121964875
ensemblrs121964875
gopubmedrs121964875
geneviewrs121964875
scholarrs121964875
googlers121964875
pharmgkbrs121964875
gwascentralrs121964875
openSNPrs121964875
23andMers121964875
23andMe allrs121964875
SNP Nexus

SNPshotrs121964875
SNPdbers121964875
MSV3drs121964875
GWAS Ctlgrs121964875
Max Magnitude0

Also known as c.59G>A, p.Trp20Ter or W20X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

OMIM192090
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121964875(A;A)
Alt rs121964875(A;A)
Reference rs121964875(G;G)
Significance Pathogenic
Disease Hereditary diffuse gastric cancer
Variation info
Gene CDH1
CLNDBN Hereditary diffuse gastric cancer
Reversed 0
HGVS NC_000016.9:g.68772210G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013026.16,