MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Disease: Hyperinsulinism ×
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: rs1016862
rs1016862 		1.000 0.040 18 60371844 missense variant A/C snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121913564
rs121913564 		0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1316381133
rs1316381133 		1.000 0.040 18 60371445 missense variant T/A snv 8.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs746906443
rs746906443 		0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012