MC1R, melanocortin 1 receptor, 4157

N. diseases: 183; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1805007
rs1805007
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2009 2019
dbSNP: rs1805008
rs1805008
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2000 2019
dbSNP: rs1805006
rs1805006
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2001 2008
dbSNP: rs1805009
rs1805009
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2000 2018