rs2228479, MC1R

N. diseases: 11
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.
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
72 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.700 1.000 1 2015 2015
melanoma
CUI: C0025202
Disease: melanoma
515 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.040 0.750 4 2001 2013
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.020 0.500 2 1999 2006
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.020 0.500 2 1999 2006
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
243 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1 2017 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1 2017 2017
Congenital Mesoblastic Nephroma
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
5 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2012 2012
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2010 2010
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
83 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2010 2010
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
3 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 1999 1999
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
13 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2006 2006