INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
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: rs121913135
rs121913135
0.882 0.120 19 7125437 missense variant C/A snv
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1993 1993
dbSNP: rs121913147
rs121913147
0.925 0.120 19 7170554 missense variant T/C snv 7.0E-06
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs1329693158
rs1329693158
0.925 0.120 19 7184454 missense variant C/T snv 4.0E-06
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1995 1995