rs1800414, OCA2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
45 0.851 0.200 15 27951891 missense variant T/A;C snv 4.0E-06; 4.5E-02 0.010 1.000 1 2014 2014
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
6 0.851 0.200 15 27951891 missense variant T/A;C snv 4.0E-06; 4.5E-02 0.010 1.000 1 2011 2011
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.851 0.200 15 27951891 missense variant T/A;C snv 4.0E-06; 4.5E-02 0.010 1.000 1 2011 2011
melanoma
CUI: C0025202
Disease: melanoma
515 0.851 0.200 15 27951891 missense variant T/A;C snv 4.0E-06; 4.5E-02 0.010 1.000 1 2014 2014