Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516048
rs1057516048
T 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: rs587784177
rs587784177
A 0.700 CausalMutation CLINVAR

dbSNP: rs587784177
rs587784177
A 0.700 GeneticVariation CLINVAR