Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555817157
rs1555817157
ABHD12
CUI: C0028738
Disease: Nystagmus
Nystagmus 		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