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rs80338965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ACAG) 4
(ACAG;ACAG) 0 common in clinvar
(AGAC;AGAC) 0 common in clinvar


Make rs80338965(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position51067123
GeneSMAD4
is asnp
is mentioned by
dbSNPrs80338965
ebirs80338965
HLIrs80338965
Exacrs80338965
Varsomers80338965
Maprs80338965
PheGenIrs80338965
hapmaprs80338965
1000 genomesrs80338965
hgdprs80338965
ensemblrs80338965
gopubmedrs80338965
geneviewrs80338965
scholarrs80338965
googlers80338965
pharmgkbrs80338965
gwascentralrs80338965
openSNPrs80338965
23andMers80338965
23andMe allrs80338965
SNP Nexus

SNPshotrs80338965
SNPdbers80338965
MSV3drs80338965
GWAS Ctlgrs80338965
Max Magnitude4
ClinVar
Risk rs80338965(;)
Alt rs80338965(;)
Reference rs80338965(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 ClinVar GeneReviews
CLNACC RCV000021727.1, RCV000131266.3, RCV000205495.1,


[PMID 15235019OA-icon.png] The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.