REN, renin, 5972

N. diseases: 721; N. variants: 25
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: rs5707
rs5707 		1.000 0.040 1 204160543 intron variant A/C;G;T snv 0.25; 2.0E-05; 1.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5707
rs5707 		1.000 0.040 1 204160543 intron variant A/C;G;T snv 0.25; 2.0E-05; 1.2E-05
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121917743
rs121917743 		1.000 0.160 1 204166247 missense variant A/C;T snv
CUI: C2751310
Disease: Hyperuricemic Nephropathy, Familial Juvenile 2
Hyperuricemic Nephropathy, Familial Juvenile 2 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2009 2009
dbSNP: rs777208537
rs777208537 		1.000 0.040 1 204156313 synonymous variant A/G snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 1999 2003
dbSNP: rs371237692
rs371237692 		0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs371237692
rs371237692 		0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs371237692
rs371237692 		0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs371237692
rs371237692 		0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs371237692
rs371237692 		0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs758564400
rs758564400 		0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2009 2009
dbSNP: rs758564400
rs758564400 		0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs758564400
rs758564400 		0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs758564400
rs758564400 		0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs758564400
rs758564400 		0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs777208537
rs777208537 		1.000 0.040 1 204156313 synonymous variant A/G snv 4.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs144219651
rs144219651 		0.925 0.080 1 204162017 missense variant A/T snv 8.0E-06 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs144219651
rs144219651 		0.925 0.080 1 204162017 missense variant A/T snv 8.0E-06 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11571111
rs11571111 		1 204161105 intron variant C/A snv 5.0E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2368564
rs2368564 		1.000 0.040 1 204155737 intron variant C/G;T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121917742
rs121917742 		1.000 0.120 1 204159399 missense variant C/T snv 4.0E-06
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2005 2005
dbSNP: rs1419147995
rs1419147995 		1.000 1 204159421 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0748073
Disease: psychosocial stressor
psychosocial stressor 		0.010 1.000 1 2006 2006
dbSNP: rs6682082
rs6682082 		1.000 0.040 1 204167813 intron variant C/T snv 0.18
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2015 2015