rs1800407, OCA2

N. diseases: 10
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.
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.710 1.000 2 2009 2019
Suntan
CUI: C0406208
Disease: Suntan
94 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.700 1.000 2 2018 2018
Hair Color
CUI: C0018498
Disease: Hair Color
312 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.700 1.000 1 2018 2018
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
72 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.700 1.000 1 2018 2018
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.700 1.000 1 2016 2016
Albinism
CUI: C0001916
Disease: Albinism
27 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2013 2013
Autosomal recessive ocular albinism
CUI: C0268503
Disease: Autosomal recessive ocular albinism
4 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2008 2008
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2009 2009
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2009 2009
melanoma
CUI: C0025202
Disease: melanoma
515 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2009 2009