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: 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: rs1051690
rs1051690 		0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2011 2011
dbSNP: rs1051690
rs1051690 		0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1051690
rs1051690 		0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
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: rs1135401737
rs1135401737 		1.000 0.160 19 7163092 missense variant C/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 0.010 1.000 1 2017 2017
dbSNP: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2001 2001
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: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		0.010 < 0.001 1 2001 2001
dbSNP: rs1181860747
rs1181860747 		0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System 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
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: rs121913135
rs121913135 		0.882 0.120 19 7125437 missense variant C/A snv
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1993 1993
dbSNP: rs121913147
rs121913147 		0.925 0.120 19 7170554 missense variant T/C snv 7.0E-06
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs1229730671
rs1229730671 		0.925 0.160 19 7122893 missense variant G/A 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 0.010 1.000 1 2018 2018
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: rs1329693158
rs1329693158 		0.925 0.120 19 7184454 missense variant C/T snv 4.0E-06
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1995 1995
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