Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906868
rs387906868
SIX3 ; SIX3-AS1
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: rs387906868
rs387906868
SIX3 ; SIX3-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs1555303073
rs1555303073
COL4A1
0.700 GeneticVariation UNIPROT Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343

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

2013
dbSNP: rs1411887961
rs1411887961
EMX2 ; EMX2OS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1564751655
rs1564751655
EMX2 ; EMX2OS
A 0.700 CausalMutation CLINVAR

dbSNP: rs387906867
rs387906867
SIX3 ; SIX3-AS1
T 0.700 CausalMutation CLINVAR