COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps ×
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: 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: 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: rs1057523354
rs1057523354 		0.763 0.480 13 110179387 missense variant C/A 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 0.700 0
dbSNP: rs113994103
rs113994103 		1.000 0.160 13 110307027 start lost T/A 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 0.700 0
dbSNP: rs113994107
rs113994107 		1.000 0.160 13 110186513 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 0.700 0
dbSNP: rs113994108
rs113994108 		0.925 0.200 13 110181326 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 0.700 0
dbSNP: rs113994109
rs113994109 		0.827 0.200 13 110179370 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 0.700 0
dbSNP: rs113994111
rs113994111 		0.925 0.200 13 110174463 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 0.700 0
dbSNP: rs113994112
rs113994112 		0.925 0.200 13 110170583 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 0.700 0
dbSNP: rs113994113
rs113994113 		0.925 0.200 13 110162425 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 0.700 0
dbSNP: rs113994114
rs113994114 		0.925 0.200 13 110155300 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 0.700 0
dbSNP: rs1461754052
rs1461754052 		1.000 0.160 13 110192857 missense variant C/A;T snv 4.0E-06
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 0.700 0
dbSNP: rs281865426
rs281865426 		1.000 0.160 13 110187292 missense variant CC/AA mnv
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 0.700 0
dbSNP: rs672601346
rs672601346 		0.925 0.200 13 110179352 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 0.700 0
dbSNP: rs747585517
rs747585517 		1.000 0.160 13 110186475 missense variant G/A snv 1.2E-05 2.1E-05
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 0.700 0