Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800407
rs1800407
OCA2
CUI: C0001916
Disease: Albinism
Albinism 		0.010 GeneticVariation BEFREE Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation. 23504663

2013