Variant: rs121917736

present in Gene: MAF;LOC101928230 present in Chromosome: 16 Position on Chromosome: 79599013 Alleles of this Variant: T/C

rs121917736 in MAF;LOC101928230 gene and CATARACT 21, MULTIPLE TYPES PMID 11772997 2002 Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

PMID 16470690 2006 "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant ""cerulean cataract"" in an Indian family."

PMID 24664492 2014 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.