Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		A 0.710 GeneticVariation CLINVAR

dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908011
rs121908011
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1384042381
rs1384042381
OCA2
CUI: C0001916
Disease: Albinism
Albinism 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs140365820
rs140365820
TYRP1 ; LURAP1L-AS1
CUI: C0001916
Disease: Albinism
Albinism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs141949212
rs141949212
OCA2
CUI: C0001916
Disease: Albinism
Albinism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs142931246
rs142931246
OCA2
CUI: C0001916
Disease: Albinism
Albinism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		T 0.700 GeneticVariation CLINVAR A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 1970634

1990
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		C 0.700 CausalMutation CLINVAR

dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs376823382
rs376823382
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906560
rs387906560
TYRP1 ; LURAP1L-AS1
CUI: C0001916
Disease: Albinism
Albinism 		G 0.700 CausalMutation CLINVAR "Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as ""OCA3""." 8651291

1996
dbSNP: rs61753253
rs61753253
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs62635042
rs62635042
GPR143 ; LOC105373126
CUI: C0001916
Disease: Albinism
Albinism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs62635045
rs62635045
GPR143 ; LOC105373126
CUI: C0001916
Disease: Albinism
Albinism 		C 0.700 GeneticVariation CLINVAR Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. 8634705

1995
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs749979474
rs749979474
TYR ; LOC107984363
CUI: C0001916
Disease: Albinism
Albinism 		T 0.700 GeneticVariation CLINVAR Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 13680365

2003