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: rs2245649
rs2245649 		1.000 0.120 19 7163203 splice region variant T/C snv 9.8E-02 0.13
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs587776819
rs587776819 		1.000 0.160 19 7172436 splice acceptor variant T/C 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 0.700 0
dbSNP: rs1555735951
rs1555735951 		1.000 0.160 19 7126585 frameshift variant ATCACTGGCA/CTTCC delins
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 1.000 1 2016 2016
dbSNP: rs587776820
rs587776820 		1.000 0.160 19 7142871 frameshift variant GTCCTGGT/- delins
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 0
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: 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: 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: rs3745551
rs3745551 		1.000 0.040 19 7114277 3 prime UTR variant C/T snv 0.67
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2015 2015
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: rs1799817
rs1799817 		0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.333 3 2011 2020
dbSNP: rs2059806
rs2059806 		0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.020 1.000 2 2015 2017
dbSNP: rs2059806
rs2059806 		0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
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 2015 2017
dbSNP: rs1799815
rs1799815 		19 7125508 synonymous variant G/A snv 5.0E-02 4.7E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
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: rs1799817
rs1799817 		0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
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: rs2059806
rs2059806 		0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2059806
rs2059806 		0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2059806
rs2059806 		0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2059806
rs2059806 		0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2059806
rs2059806 		0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017