Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368352689
rs368352689
ACTB
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.700 CausalMutation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937

1999