Gene: ABHD12 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758316679
rs758316679
ABHD12
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. 22938382

2012
dbSNP: rs1555811525
rs1555811525
ABHD12
C 0.700 GeneticVariation CLINVAR