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rs587781359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.1 Juvenile polyposis syndrome
Make rs587781359(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position51076674
GeneSMAD4
is asnp
is mentioned by
dbSNPrs587781359
dbSNP (classic)rs587781359
ClinGenrs587781359
ebirs587781359
HLIrs587781359
Exacrs587781359
Gnomadrs587781359
Varsomers587781359
LitVarrs587781359
Maprs587781359
PheGenIrs587781359
Biobankrs587781359
1000 genomesrs587781359
hgdprs587781359
ensemblrs587781359
geneviewrs587781359
scholarrs587781359
googlers587781359
pharmgkbrs587781359
gwascentralrs587781359
openSNPrs587781359
23andMers587781359
SNPshotrs587781359
SNPdbers587781359
MSV3drs587781359
GWAS Ctlgrs587781359
Max Magnitude5.1
ClinVar
Risk rs587781359(T;T)
Alt rs587781359(T;T)
Reference Rs587781359(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene SMAD4
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000018.9:g.48603044C>T
CLNSRC
CLNACC RCV000129151.2,