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: rs121913136
rs121913136 		1.000 0.160 19 7170561 missense variant T/C snv 7.0E-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: rs121913158
rs121913158 		1.000 0.160 19 7170704 missense variant C/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 0.810 1.000 20 1988 2017
dbSNP: rs1229730671
rs1229730671 		0.925 0.160 19 7122893 missense variant G/A snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.710 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: rs267607184
rs267607184 		1.000 0.160 19 7172381 missense variant C/T 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: rs52836744
rs52836744 		1.000 0.160 19 7267825 missense variant C/T 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: rs121913135
rs121913135 		0.882 0.120 19 7125437 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 0.800 1.000 17 1988 2017
dbSNP: rs121913138
rs121913138 		1.000 0.120 19 7143072 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 0.800 1.000 17 1988 2017
dbSNP: rs121913139
rs121913139 		1.000 0.120 19 7122662 missense variant C/T 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 0.800 1.000 17 1988 2017
dbSNP: rs121913140
rs121913140 		1.000 0.120 19 7119563 stop gained C/G;T 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 0.800 1.000 17 1988 2017
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: rs121913147
rs121913147 		0.925 0.120 19 7170554 missense variant T/C 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 0.800 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: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.070 1.000 7 2002 2019
dbSNP: rs121913143
rs121913143 		1.000 0.160 19 7267871 missense variant G/T snv
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 0.810 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: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.060 1.000 6 2001 2016
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: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2003 2015
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: 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: 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