Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777593389
rs777593389
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs1057518939
rs1057518939
C 0.700 CausalMutation CLINVAR

dbSNP: rs386834055
rs386834055
TA 0.700 CausalMutation CLINVAR

dbSNP: rs386834061
rs386834061
T 0.700 CausalMutation CLINVAR

dbSNP: rs386834070
rs386834070
T 0.700 CausalMutation CLINVAR