Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. 24721949

2015
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 19865097

2010
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704

2008
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 7704033

1995