Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917736
rs121917736
MAF ; LOC101928230
0.800 GeneticVariation UNIPROT Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. 24664492

2014
dbSNP: rs121917736
rs121917736
MAF ; LOC101928230
0.800 GeneticVariation UNIPROT "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family." 16470690

2006
dbSNP: rs121917736
rs121917736
MAF ; LOC101928230
0.800 GeneticVariation UNIPROT Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 11772997

2002
dbSNP: rs121917736
rs121917736
MAF ; LOC101928230
C 0.800 CausalMutation CLINVAR