Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906868
rs387906868
SIX3 ; SIX3-AS1
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.800 GeneticVariation UNIPROT Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. 20157829

2010
dbSNP: rs1555303073
rs1555303073
COL4A1
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.700 GeneticVariation UNIPROT Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343

2013
dbSNP: rs587777379
rs587777379
COL4A1
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.700 GeneticVariation UNIPROT Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343

2013