Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893739
rs104893739
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893741
rs104893741
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516139
rs1057516139
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516140
rs1057516140
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516141
rs1057516141
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057516142
rs1057516142
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516142
rs1057516142
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516144
rs1057516144
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516145
rs1057516145
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516149
rs1057516149
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516150
rs1057516150
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516151
rs1057516151
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516153
rs1057516153
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516156
rs1057516156
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516157
rs1057516157
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516158
rs1057516158
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516159
rs1057516159
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516161
rs1057516161
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1057516163
rs1057516163
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057516164
rs1057516164
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516165
rs1057516165
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516166
rs1057516166
AGGAGGCATAGGGCATGGGTGAG 0.700 CausalMutation CLINVAR

dbSNP: rs1057516167
rs1057516167
T 0.700 CausalMutation CLINVAR

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