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rs587782338

From SNPedia

Orientationplus
Geno Mag Summary
(AGAC;AGAC) 0 common in clinvar
Make rs587782338(-;-)
Make rs587782338(-;CAGA)
Make rs587782338(CAGA;CAGA)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position51067124
GeneSMAD4
is asnp
is mentioned by
dbSNPrs587782338
ebirs587782338
HLIrs587782338
Exacrs587782338
Varsomers587782338
Maprs587782338
PheGenIrs587782338
hapmaprs587782338
1000 genomesrs587782338
hgdprs587782338
ensemblrs587782338
gopubmedrs587782338
geneviewrs587782338
scholarrs587782338
googlers587782338
pharmgkbrs587782338
gwascentralrs587782338
openSNPrs587782338
23andMers587782338
23andMe allrs587782338
SNP Nexus

SNPshotrs587782338
SNPdbers587782338
MSV3drs587782338
GWAS Ctlgrs587782338
Max Magnitude0
ClinVar
Risk rs587782338(;)
Alt rs587782338(;)
Reference rs587782338(AGAC;AGAC)
Significance Pathogenic
Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48593494_48593497delCAGA
CLNSRC
CLNACC RCV000021727.1, RCV000131266.3, RCV000205495.1,