Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555817157
rs1555817157
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018

dbSNP: rs1057518946
rs1057518946
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908552
rs121908552
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555365597
rs1555365597
A 0.700 CausalMutation CLINVAR

dbSNP: rs771785420
rs771785420
GAN
T 0.700 GeneticVariation CLINVAR