Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909215
rs121909215
0.720 GeneticVariation BEFREE Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD. 20360992

2010

dbSNP: rs121909215
rs121909215
0.720 GeneticVariation BEFREE Affected members of the family with Reis-Bücklers dystrophy did not carry the previously reported mutations Arg555Gln or Arg124Leu but instead carried a novel missense mutation Gly623Asp in the BIGH3 gene. 11146721

2001

dbSNP: rs121909215
rs121909215
A 0.720 CausalMutation CLINVAR