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rs587783048

From SNPedia

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Geno Mag Summary
(-;C) 5 Hereditary cancer-predisposing syndrome; gastric cancer related?
(C;C) 0 common in clinvar


Make rs587783048(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position68829756
GeneCDH1
is asnp
is mentioned by
dbSNPrs587783048
ebirs587783048
HLIrs587783048
Exacrs587783048
Varsomers587783048
Maprs587783048
PheGenIrs587783048
hapmaprs587783048
1000 genomesrs587783048
hgdprs587783048
ensemblrs587783048
gopubmedrs587783048
geneviewrs587783048
scholarrs587783048
googlers587783048
pharmgkbrs587783048
gwascentralrs587783048
openSNPrs587783048
23andMers587783048
23andMe allrs587783048
SNP Nexus

SNPshotrs587783048
SNPdbers587783048
MSV3drs587783048
GWAS Ctlgrs587783048
Max Magnitude5

Also known as c.2398delC, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.

ClinVar
Risk rs587783048(;)
Alt rs587783048(;)
Reference rs587783048(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.68863659delC
CLNSRC
CLNACC RCV000144591.1,