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: rs387906538
rs387906538 		1.000 0.160 19 7132230 stop gained G/A;C snv 4.0E-06
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs121913142
rs121913142 		0.925 0.120 19 7172333 missense variant A/C snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs1295645322
rs1295645322 		1.000 0.120 19 7120665 missense variant G/A snv 7.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs52800171
rs52800171 		1.000 0.120 19 7120620 missense variant C/A snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs52826008
rs52826008 		1.000 0.120 19 7117072 missense variant C/G;T snv 1.2E-05; 3.5E-04
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs121913145
rs121913145 		0.925 0.160 19 7184583 missense variant T/C snv 8.0E-06 2.1E-05
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 7 1990 2017
dbSNP: rs764221583
rs764221583 		1.000 0.160 19 7172402 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 7 1990 2017
dbSNP: rs781007453
rs781007453 		0.925 0.160 19 7184524 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 7 1990 2017
dbSNP: rs887190835
rs887190835 		1.000 0.160 19 7141726 missense variant T/C snv 7.0E-06
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 7 1990 2017
dbSNP: rs4247374
rs4247374 		19 7252745 intron variant C/T snv 9.7E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 3 2016 2018
dbSNP: rs12978472
rs12978472 		19 7257979 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs4247374
rs4247374 		19 7252745 intron variant C/T snv 9.7E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2016 2018
dbSNP: rs891088
rs891088 		19 7184751 intron variant A/G snv 0.32
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2014
dbSNP: rs1035940
rs1035940 		19 7199967 intron variant C/A;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1035941
rs1035941 		19 7199928 intron variant A/G;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1035942
rs1035942 		0.925 0.120 19 7199792 intron variant A/G snv 0.75
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2013 2013
dbSNP: rs1035942
rs1035942 		0.925 0.120 19 7199792 intron variant A/G snv 0.75
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1035942
rs1035942 		0.925 0.120 19 7199792 intron variant A/G snv 0.75
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10405423
rs10405423 		19 7211300 intron variant C/A;G snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs10421414
rs10421414 		19 7133924 intron variant T/C snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs10427021
rs10427021 		19 7259335 intron variant T/C;G snv 0.15
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs10427021
rs10427021 		19 7259335 intron variant T/C;G snv 0.15
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs11671314
rs11671314 		19 7258394 intron variant G/C snv 0.22
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs12978472
rs12978472 		19 7257979 intron variant C/G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs12978472
rs12978472 		19 7257979 intron variant C/G;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018