rs1800407, OCA2

N. diseases: 6
Source: BEFREE ×
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
197 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.710 1.000 1 2009 2019
Albinism
CUI: C0001916
Disease: Albinism
10 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
65 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
352 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2009 2009