IRS1, insulin receptor substrate 1, 3667

N. diseases: 233; N. variants: 15
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: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2016
dbSNP: rs142101835
rs142101835 		2 226795925 synonymous variant A/G snv 2.5E-03 2.3E-03
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C4285910
Disease: Obstructive sleep apnea hypopnea syndrome
Obstructive sleep apnea hypopnea syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 1.000 1 2009 2009
dbSNP: rs2229613
rs2229613 		2 226795973 synonymous variant C/T snv 7.1E-03 2.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2229613
rs2229613 		2 226795973 synonymous variant C/T snv 7.1E-03 2.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2229613
rs2229613 		2 226795973 synonymous variant C/T snv 7.1E-03 2.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C1852091
Disease: INSULIN RESISTANCE, SUSCEPTIBILITY TO
INSULIN RESISTANCE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C1840169
Disease: CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2005 2011
dbSNP: rs13431554
rs13431554 		0.925 0.120 2 226732872 3 prime UTR variant A/G snv 0.10
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2014 2019
dbSNP: rs1801123
rs1801123 		0.882 0.120 2 226796327 synonymous variant T/C snv 0.18 0.20
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1801123
rs1801123 		0.882 0.120 2 226796327 synonymous variant T/C snv 0.18 0.20
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs759374843
rs759374843 		1.000 0.080 2 226795048 missense variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.050 1.000 5 1999 2014
dbSNP: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1801123
rs1801123 		0.882 0.120 2 226796327 synonymous variant T/C snv 0.18 0.20
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2016 2016