rs1805007, MC1R

N. diseases: 25
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.
melanoma
CUI: C0025202
Disease: melanoma
515 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 0.938 16 2001 2019
Hair Color
CUI: C0018498
Disease: Hair Color
312 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 1.000 3 2007 2018
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.730 1.000 3 2009 2015
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
109 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 3 2011 2019
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
109 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 3 2011 2019
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
109 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 3 2011 2019
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
72 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 3 2013 2018
Melanosis
CUI: C0025209
Disease: Melanosis
23 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 2 2007 2018
Freckles
CUI: C0016689
Disease: Freckles
10 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2007 2007
Skin carcinoma
CUI: C0699893
Disease: Skin carcinoma
24 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2013 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2019 2019
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2016 2016
Suntan
CUI: C0406208
Disease: Suntan
94 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2013 2013
INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)
2 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 0
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
3 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 0
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
3 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 0
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 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)
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
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
67 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
115 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
990 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2007 2007