Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894962
rs104894962
ZIC3
0.800 GeneticVariation UNIPROT Genetic and functional analyses of ZIC3 variants in congenital heart disease. 24123890

2014
dbSNP: rs104894962
rs104894962
ZIC3
0.800 GeneticVariation UNIPROT Characterization of the interactions of human ZIC3 mutants with GLI3. 17764085

2008
dbSNP: rs104894962
rs104894962
ZIC3
0.800 GeneticVariation UNIPROT Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. 18716025

2008
dbSNP: rs104894962
rs104894962
ZIC3
0.800 GeneticVariation UNIPROT Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. 17295247

2007
dbSNP: rs104894962
rs104894962
ZIC3
0.800 GeneticVariation UNIPROT Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. 14681828

2004
dbSNP: rs104894962
rs104894962
ZIC3
0.800 GeneticVariation UNIPROT X-linked situs abnormalities result from mutations in ZIC3. 9354794

1997
dbSNP: rs104894962
rs104894962
ZIC3
G 0.800 CausalMutation CLINVAR