Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112550005
rs112550005
A 0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580

2016

dbSNP: rs112550005
rs112550005
A 0.700 CausalMutation CLINVAR Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002