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rs587783047

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Hereditary cancer-predisposing syndrome; gastric cancer related?
Make rs587783047(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position68801693
GeneCDH1
is asnp
is mentioned by
dbSNPrs587783047
ebirs587783047
HLIrs587783047
Exacrs587783047
Varsomers587783047
Maprs587783047
PheGenIrs587783047
hapmaprs587783047
1000 genomesrs587783047
hgdprs587783047
ensemblrs587783047
gopubmedrs587783047
geneviewrs587783047
scholarrs587783047
googlers587783047
pharmgkbrs587783047
gwascentralrs587783047
openSNPrs587783047
23andMers587783047
23andMe allrs587783047
SNP Nexus

SNPshotrs587783047
SNPdbers587783047
MSV3drs587783047
GWAS Ctlgrs587783047
Max Magnitude5

Also known as c.187C>T, p.Arg63Ter or R63X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

ClinVar
Risk rs587783047(T;T)
Alt rs587783047(T;T)
Reference rs587783047(C;C)
Significance Pathogenic
Disease Hereditary diffuse gastric cancer
Variation info
Gene CDH1
CLNDBN Hereditary diffuse gastric cancer
Reversed 0
HGVS NC_000016.9:g.68835596C>T
CLNSRC
CLNACC RCV000144590.2,