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: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2963
rs2963 		0.851 0.240 19 7163143 synonymous variant G/A snv 9.8E-02 0.13
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1799817
rs1799817 		0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21
CUI: C1332166
Disease: Adenocarcinoma of the gastroesophageal junction
Adenocarcinoma of the gastroesophageal junction 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
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: rs4804411
rs4804411 		19 7222366 intron variant G/A;C snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2059807
rs2059807 		0.851 0.200 19 7166098 intron variant A/G;T snv
CUI: C0003128
Disease: Anovulation
Anovulation 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2059807
rs2059807 		0.851 0.200 19 7166098 intron variant A/G;T snv
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
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: rs8106042
rs8106042 		19 7161838 intron variant C/G snv 0.28
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs8106700
rs8106700 		19 7200547 intron variant A/G;T snv
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 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: 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: rs34840745
rs34840745 		19 7183786 intron variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4804413
rs4804413 		19 7222644 intron variant C/T snv 0.37
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs919275
rs919275 		0.925 0.080 19 7261430 intron variant T/C snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2252673
rs2252673 		0.882 0.120 19 7150407 intron variant C/G snv 0.75
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3745546
rs3745546 		0.925 0.120 19 7211805 intron variant G/A;C snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
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: rs1051690
rs1051690 		0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1052371
rs1052371 		1.000 0.080 19 7112582 3 prime UTR variant G/A snv 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1799817
rs1799817 		0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2115386
rs2115386 		0.925 0.160 19 7196554 intron variant C/T snv 0.48
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012