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
dbSNP: rs113994109
rs113994109
COL4A1
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		0.010 GeneticVariation BEFREE Three related patients with porencephaly bearing the G749S mutation in the COL4A1 gene and one healthy control belonging to the same family underwent skin biopsy. 26686511

2016
dbSNP: rs6025
rs6025
F5
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		0.010 GeneticVariation BEFREE The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n = 24). 9577282

1998