Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516037
rs1057516037
AC 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs397515415
rs397515415
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312660
rs869312660
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041936
rs886041936
A 0.700 CausalMutation CLINVAR