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: rs2059807
rs2059807 		0.851 0.200 19 7166098 intron variant A/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.830 0.500 4 2011 2020
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: rs7248104
rs7248104 		19 7224420 intron variant G/A snv 0.38
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2013 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: rs2252673
rs2252673 		0.882 0.120 19 7150407 intron variant C/G snv 0.75
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2014
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: rs10500204
rs10500204 		0.882 0.160 19 7182952 intron variant A/C snv 0.25
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs10500204
rs10500204 		0.882 0.160 19 7182952 intron variant A/C snv 0.25
CUI: C0154084
Disease: Stage 0 Breast Carcinoma
Stage 0 Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10500204
rs10500204 		0.882 0.160 19 7182952 intron variant A/C snv 0.25
CUI: C4520821
Disease: Stage 0 Breast Cancer AJCC v6 and v7
Stage 0 Breast Cancer AJCC v6 and v7 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
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
dbSNP: rs12978472
rs12978472 		19 7257979 intron variant C/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12978472
rs12978472 		19 7257979 intron variant C/G;T snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17253937
rs17253937 		1.000 0.120 19 7184790 intron variant C/T snv 0.14
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014