Variant: rs397514756 

    present in Gene: ABCB6
    present in Chromosome: 2
    Position on Chromosome: 219216084
    Alleles of this Variant: A/G

rs397514756 in ABCB6 gene and DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 PMID 24224009 2013 Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

PMID 24498303 2014 Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

PMID 23519333 2013 Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

PMID 25288164 2014 Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.