COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
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: rs4773144
rs4773144 		0.827 0.080 13 110308365 intron variant A/G snv 0.42
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.810 1.000 3 2011 2016
dbSNP: rs11617955
rs11617955 		1.000 0.040 13 110165755 intron variant T/A snv 9.3E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.800 1.000 3 2013 2018
dbSNP: rs113994104
rs113994104 		1.000 0.160 13 110192257 missense variant C/A;T snv
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2014 2014
dbSNP: rs113994105
rs113994105 		1.000 0.160 13 110187311 missense variant C/T snv
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2014 2014
dbSNP: rs113994106
rs113994106 		1.000 0.160 13 110187283 missense variant C/T snv
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2014 2014
dbSNP: rs200786329
rs200786329 		0.925 13 110201467 missense variant G/A snv 5.2E-05 1.7E-04
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.800 1.000 1 2012 2012
dbSNP: rs267606743
rs267606743 		1.000 0.160 13 110192222 missense variant C/T snv
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2014 2014
dbSNP: rs267606744
rs267606744 		1.000 0.160 13 110192258 missense variant C/G snv
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2014 2014
dbSNP: rs3809346
rs3809346 		1.000 0.080 13 110308596 intron variant G/A;C snv
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs397514624
rs397514624 		0.925 13 110187254 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.800 1.000 1 2012 2012
dbSNP: rs267606743
rs267606743 		1.000 0.160 13 110192222 missense variant C/T snv
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
RETINAL ARTERIES, TORTUOSITY OF 		0.800 0
dbSNP: rs9521634
rs9521634 		13 110181552 intron variant T/A;C snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 2 2018 2018
dbSNP: rs1064795935
rs1064795935 		1.000 13 110181389 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 18 1984 2015
dbSNP: rs1064795935
rs1064795935 		1.000 13 110181389 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1984 2015
dbSNP: rs1064795935
rs1064795935 		1.000 13 110181389 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1984 2015
dbSNP: rs1555302454
rs1555302454 		13 110170615 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1984 2015
dbSNP: rs1555302735
rs1555302735 		13 110173899 splice donor variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 18 1984 2015
dbSNP: rs1555303010
rs1555303010 		13 110176450 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 18 1984 2015
dbSNP: rs1555303010
rs1555303010 		13 110176450 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 18 1984 2015
dbSNP: rs672601347
rs672601347 		0.925 0.120 13 110179298 missense variant C/G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1984 2015
dbSNP: rs121912857
rs121912857 		1.000 0.120 13 110187181 missense variant C/G;T snv 4.0E-06
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 2005 2014
dbSNP: rs587780588
rs587780588 		1.000 13 110183002 missense variant C/T snv
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		0.700 1.000 3 2006 2012
dbSNP: rs664532
rs664532 		13 110280016 intron variant T/C snv 0.55
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2019 2019
dbSNP: rs7989823
rs7989823 		13 110307296 5 prime UTR variant A/C snv 0.63
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2017 2017
dbSNP: rs112972174
rs112972174 		13 110256584 intron variant G/A;C snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018