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: rs1800413
rs1800413
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs190612616
rs190612616
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs200457227
rs200457227
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs368124046
rs368124046
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs368124046
rs368124046
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs371963034
rs371963034
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs387906240
rs387906240
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906241
rs387906241
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
G 0.700 CausalMutation CLINVAR
dbSNP: rs562649990
rs562649990
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs74653330
rs74653330
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs751822606
rs751822606
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs763219039
rs763219039
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs763819379
rs763819379
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
C 0.700 CausalMutation CLINVAR
dbSNP: rs765779905
rs765779905
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs772595552
rs772595552
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
C 0.700 CausalMutation CLINVAR
dbSNP: rs776814755
rs776814755
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs776814755
rs776814755
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs797044784
rs797044784
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
GACC 0.700 GeneticVariation CLINVAR
dbSNP: rs797045838
rs797045838
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs797045839
rs797045839
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs886043514
rs886043514
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2
0.700 GeneticVariation UNIPROT
dbSNP: rs121918166
rs121918166
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. 8421497 1993
dbSNP: rs121918166
rs121918166
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. 8421497 1993
dbSNP: rs141949212
rs141949212
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. 8421497 1993
dbSNP: rs141949212
rs141949212
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 GeneticVariation CLINVAR A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. 8421497 1993