Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516168
rs1057516168
0.710 GeneticVariation BEFREE DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C). 15257268

2004

dbSNP: rs1057516168
rs1057516168
C 0.710 CausalMutation CLINVAR