Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144812594
rs144812594
OCA2
CUI: C0001916
Disease: Albinism
Albinism 		0.010 GeneticVariation BEFREE This mutation was found in a young African albino patient in compound heterozygosity with a previously-reported OCA2 missense mutation (p.T404M). 24361966

2014