Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729641
rs794729641
ZIC2
G 0.700 GeneticVariation CLINVAR Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. 19955556

2010
dbSNP: rs794729641
rs794729641
ZIC2
G 0.700 GeneticVariation CLINVAR The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. 19177455

2009