Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906592
rs387906592
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
0.800 GeneticVariation UNIPROT Analysis of ACTA2 in European Moyamoya disease patients. 20970362

2011

dbSNP: rs387906592
rs387906592
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
T 0.800 CausalMutation CLINVAR