Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307709
rs1085307709
COL4A1
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		0.010 GeneticVariation BEFREE We report on a girl with porencephaly and an episode of microangiopathic hemolysis in infancy and her father with HANAC, both of whom had a heterozygous missense mutation of COL4A1 (c.3715G>A, p.G1239R). 25425218

2015