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: 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: 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: rs121913142
rs121913142 		0.925 0.120 19 7172333 missense variant A/C snv
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913141
rs121913141 		1.000 0.160 19 7184511 missense variant A/C;G 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 0.800 1.000 20 1988 2017
dbSNP: rs1555689937
rs1555689937 		1.000 0.160 19 7267830 missense variant A/G snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 20 1988 2017
dbSNP: rs1366600
rs1366600 		1.000 0.080 19 7112870 3 prime UTR variant A/G snv 5.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2013 2019
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: 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: rs1298461800
rs1298461800 		1.000 0.080 19 7184359 missense variant A/G snv 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1366600
rs1366600 		1.000 0.080 19 7112870 3 prime UTR variant A/G snv 5.9E-02
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1419256494
rs1419256494 		0.882 0.280 19 7142938 missense variant A/G 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 0.010 1.000 1 2013 2013
dbSNP: rs1419256494
rs1419256494 		0.882 0.280 19 7142938 missense variant A/G snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1419256494
rs1419256494 		0.882 0.280 19 7142938 missense variant A/G snv 4.0E-06
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs36047283
rs36047283 		19 7255690 intron variant A/G snv 0.14
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs3786681
rs3786681 		1.000 0.120 19 7168922 intron variant A/G snv 0.24
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
dbSNP: rs387906539
rs387906539 		0.925 0.280 19 7184592 missense variant A/G snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 1991 1991
dbSNP: rs387906539
rs387906539 		0.925 0.280 19 7184592 missense variant A/G snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.010 1.000 1 1991 1991
dbSNP: rs891088
rs891088 		19 7184751 intron variant A/G snv 0.32
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs121913152
rs121913152 		1.000 0.160 19 7267833 missense variant A/G snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System 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
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