INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5 ×
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: rs121913156
rs121913156 		0.925 0.120 19 7120677 missense variant C/T snv 4.0E-06
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797045624
rs797045624 		1.000 0.040 19 7167966 splice donor variant A/G snv 7.0E-06
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		Nutritional and Metabolic Diseases 0.700 0