ADD1, adducin 1, 118

N. diseases: 67; N. variants: 11
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: rs762847
rs762847 		1.000 0.120 4 2910336 intron variant A/G snv 0.54
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.100 0.842 38 1998 2020
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.100 0.947 19 1997 2017
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.040 1.000 4 2001 2020
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.040 1.000 4 2001 2020
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2006 2009
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2001 2008
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.030 1.000 3 2003 2014
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2003 2003
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2003 2003
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2003 2003
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0265706
Disease: Gastroschisis
Gastroschisis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2006 2018
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2002 2006
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2002 2007
dbSNP: rs4963
rs4963 		0.827 0.120 4 2915035 missense variant C/G;T snv 0.20 0.18
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2013 2016
dbSNP: rs1255327081
rs1255327081 		4 2926062 missense variant A/G snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs1396258746
rs1396258746 		0.925 0.120 4 2898474 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C0265706
Disease: Gastroschisis
Gastroschisis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1396258746
rs1396258746 		0.925 0.120 4 2898474 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2005 2005
dbSNP: rs16843452
rs16843452 		4 2847441 intron variant C/T snv 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs201637172
rs201637172 		1.000 0.040 4 2894717 missense variant C/A;T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs372777117
rs372777117 		4 2898494 missense variant A/G;T snv 4.0E-06; 1.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs3755885
rs3755885 		1.000 0.040 4 2886214 intron variant C/G snv 4.3E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0020544
Disease: Renal hypertension
Renal hypertension 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs4961
rs4961 		0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006