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rs587780784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Hereditary cancer-predisposing syndrome; gastric cancer related?
Make rs587780784(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position68811854
GeneCDH1
is asnp
is mentioned by
dbSNPrs587780784
ebirs587780784
HLIrs587780784
Exacrs587780784
Varsomers587780784
Maprs587780784
PheGenIrs587780784
hapmaprs587780784
1000 genomesrs587780784
hgdprs587780784
ensemblrs587780784
gopubmedrs587780784
geneviewrs587780784
scholarrs587780784
googlers587780784
pharmgkbrs587780784
gwascentralrs587780784
openSNPrs587780784
23andMers587780784
23andMe allrs587780784
SNP Nexus

SNPshotrs587780784
SNPdbers587780784
MSV3drs587780784
GWAS Ctlgrs587780784
Max Magnitude5

Also known as c.1003C>T, p.Arg335Ter or R335X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

ClinVar
Risk rs587780784(G,T;G,T)
Alt rs587780784(G,T;G,T)
Reference rs587780784(C;C)
Significance Pathogenic
Disease Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene CDH1
CLNDBN Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000016.9:g.68845757C>T
CLNSRC
CLNACC RCV000123230.2, RCV000130670.2, RCV000218355.1,