OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918168
rs121918168
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs121918169
rs121918169
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs121918171
rs121918171
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs144812594
rs144812594
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.800 GeneticVariation CLINVAR
dbSNP: rs61738394
rs61738394
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.800 GeneticVariation CLINVAR
dbSNP: rs757286784
rs757286784
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
G 0.800 GeneticVariation CLINVAR
dbSNP: rs780296175
rs780296175
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.800 GeneticVariation CLINVAR
dbSNP: rs1184589806
rs1184589806
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT
dbSNP: rs121918166
rs121918166
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918167
rs121918167
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121918170
rs121918170
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs1255943449
rs1255943449
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs1372200062
rs1372200062
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs137956605
rs137956605
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs1384042381
rs1384042381
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0001916
Disease:
Albinism
G 0.700 GeneticVariation CLINVAR
dbSNP: rs140566426
rs140566426
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs141949212
rs141949212
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs141949212
rs141949212
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0001916
Disease:
Albinism
T 0.700 GeneticVariation CLINVAR
dbSNP: rs141949212
rs141949212
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs142931246
rs142931246
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0001916
Disease:
Albinism
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555375711
rs1555375711
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268497
Disease:
Brown oculocutaneous albinism
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555375711
rs1555375711
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555391997
rs1555391997
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555392037
rs1555392037
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555422232
rs1555422232
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 CausalMutation CLINVAR