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: 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: 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: 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: 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: rs52826008
rs52826008 		1.000 0.120 19 7117072 missense variant C/G;T snv 1.2E-05; 3.5E-04
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: 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: 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: 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: rs121913156
rs121913156 		0.925 0.120 19 7120677 missense variant C/T snv 4.0E-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 0
dbSNP: rs121913156
rs121913156 		0.925 0.120 19 7120677 missense variant C/T snv 4.0E-06
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1568426700
rs1568426700 		19 7120678 missense variant G/A snv
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121913150
rs121913150 		1.000 0.080 19 7120707 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 5 1992 2013
dbSNP: rs121913157
rs121913157 		19 7120739 missense variant C/T snv
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121913154
rs121913154 		1.000 0.120 19 7122658 missense variant G/A;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 0
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: rs121913139
rs121913139 		1.000 0.120 19 7122662 missense variant C/T snv
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs111993466
rs111993466 		1.000 0.160 19 7122671 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 0.710 1.000 1 1999 1999
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: 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: 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: 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