rs1805008, MC1R

N. diseases: 16
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.
Hair Color
CUI: C0018498
Disease: Hair Color
312 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.700 1.000 1 2018 2018
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
72 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.700 1.000 1 2015 2015
INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)
CUI: C2751296
Disease: INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)
2 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.700 0
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
CUI: C1835054
Disease: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
3 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.700 0
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
CUI: C4016260
Disease: SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
3 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.700 0
melanoma
CUI: C0025202
Disease: melanoma
515 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.090 0.889 9 2001 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.040 0.750 4 2015 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.030 1.000 3 2000 2019
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
13 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.020 1.000 2 2005 2008
Familial glucocorticoid deficiency
CUI: C4054695
Disease: Familial glucocorticoid deficiency
4 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2012 2012
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
67 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2002 2002
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2002 2002
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2017 2017
REM Sleep Behavior Disorder
CUI: C0751772
Disease: REM Sleep Behavior Disorder
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1 2016 2016
Vitiligo
CUI: C0042900
Disease: Vitiligo
249 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2008 2008
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2008 2008