Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777379
rs587777379
COL4A1
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.700 GeneticVariation UNIPROT Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343

2013