Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514756
rs397514756
ABCB6
0.800 GeneticVariation UNIPROT Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. 25288164

2014
dbSNP: rs397514756
rs397514756
ABCB6
0.800 GeneticVariation UNIPROT Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. 24498303

2014
dbSNP: rs397514756
rs397514756
ABCB6
0.800 GeneticVariation UNIPROT Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 23519333

2013
dbSNP: rs397514756
rs397514756
ABCB6
0.800 GeneticVariation UNIPROT Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. 24224009

2013
dbSNP: rs397514756
rs397514756
ABCB6
G 0.800 CausalMutation CLINVAR