IRS2, insulin receptor substrate 2, 8660

N. diseases: 152; N. variants: 6
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: rs754205
rs754205 		13 109759295 intron variant A/C;G snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs754205
rs754205 		13 109759295 intron variant A/C;G snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs754205
rs754205 		13 109759295 intron variant A/C;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs754205
rs754205 		13 109759295 intron variant A/C;G snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs137852740
rs137852740 		1.000 0.080 13 109784115 missense variant G/A;C snv 2.2E-05; 9.3E-05
CUI: C4016690
Disease: DIABETES, TYPE II, SUSCEPTIBILITY TO
DIABETES, TYPE II, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C4016690
Disease: DIABETES, TYPE II, SUSCEPTIBILITY TO
DIABETES, TYPE II, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 1.000 12 2000 2017
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.080 0.875 8 2001 2016
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.060 1.000 6 2003 2015
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.020 0.500 2 2001 2003
dbSNP: rs137852740
rs137852740 		1.000 0.080 13 109784115 missense variant G/A;C snv 2.2E-05; 9.3E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		0.010 < 0.001 1 2001 2001
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1805097
rs1805097 		0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012