rs1805007, MC1R

N. diseases: 11
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.
melanoma
CUI: C0025202
Disease: melanoma
352 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 0.938 15 2001 2019
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
65 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.730 1.000 3 2009 2015
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
58 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.030 1.000 3 2009 2019
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
13 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.030 1.000 3 2005 2008
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.020 1.000 2 2009 2011
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.020 1.000 2 2002 2007
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2001 2001
Congenital Mesoblastic Nephroma
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
5 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2012 2012
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
20 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2002 2002
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
69 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2017 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
751 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2007 2007