COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780588
rs587780588
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4013035
Disease:
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		T 0.700 GeneticVariation CLINVAR Reorganizing the protein space at the Universal Protein Resource (UniProt). 22102590 2012
dbSNP: rs587780588
rs587780588
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4013035
Disease:
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		T 0.700 GeneticVariation CLINVAR Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
dbSNP: rs587780588
rs587780588
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4013035
Disease:
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		T 0.700 GeneticVariation CLINVAR Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045 2006