Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994104
rs113994104
COL4A1
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113994105
rs113994105
COL4A1
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113994106
rs113994106
COL4A1
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs200786329
rs200786329
COL4A1
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. 22522439

2012
dbSNP: rs267606743
rs267606743
COL4A1
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs267606743
rs267606743
COL4A1
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
RETINAL ARTERIES, TORTUOSITY OF 		0.800 GeneticVariation UNIPROT

dbSNP: rs267606744
rs267606744
COL4A1
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs397514624
rs397514624
COL4A1
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. 22522439

2012
dbSNP: rs113994108
rs113994108
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113994109
rs113994109
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113994110
rs113994110
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT

dbSNP: rs113994111
rs113994111
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113994112
rs113994112
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113994113
rs113994113
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113994114
rs113994114
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 24628545

2014
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 23394911

2013
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Childhood presentation of COL4A1 mutations. 22574627

2012
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. 19477666

2010
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Ophthalmological features associated with COL4A1 mutations. 20385946

2010
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 19194877

2009
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175

2007
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 17379824

2007
dbSNP: rs121912857
rs121912857
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.700 GeneticVariation UNIPROT Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 16107487

2006