Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912580
rs121912580
SMAD4
0.800 GeneticVariation UNIPROT A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
dbSNP: rs121912580
rs121912580
SMAD4
A 0.800 CausalMutation CLINVAR