MC5R, melanocortin 5 receptor, 4161

N. diseases: 16; N. variants: 3
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: rs1541276
rs1541276
0.925 0.120 18 13825728 splice region variant A/C snv 0.17 0.19
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2236700
rs2236700
0.882 0.160 18 13826392 missense variant C/G;T snv 2.4E-05; 0.21; 4.0E-06 0.23
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008