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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs885479
rs885479
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2001 2001