Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
CUI: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism 		0.020 GeneticVariation BEFREE The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 19208379

2009
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
CUI: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism 		0.020 GeneticVariation BEFREE Almost all patients with OCA1-related AROA were compound heterozygous for severe OCA1 mutant alleles and the common R402Q variant. 18326704

2008