Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756225250
rs756225250
ZIC2
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation 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 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
dbSNP: rs756225250
rs756225250
ZIC2
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation. 15590697

2005
dbSNP: rs756225250
rs756225250
ZIC2
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. 11285244

2001
dbSNP: rs756225250
rs756225250
ZIC2
AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG 0.700 CausalMutation CLINVAR Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. 9771712

1998
dbSNP: rs1060499562
rs1060499562
ZIC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499563
rs1060499563
ZIC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499564
rs1060499564
ZIC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1185333947
rs1185333947
ZIC2
0.700 GeneticVariation UNIPROT

dbSNP: rs1456001894
rs1456001894
ZIC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555332212
rs1555332212
ZIC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555332361
rs1555332361
ZIC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555332362
rs1555332362
ZIC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566405714
rs1566405714
ZIC2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397515364
rs397515364
ZIC2
GC 0.700 CausalMutation CLINVAR

dbSNP: rs397515365
rs397515365
ZIC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs749567106
rs749567106
ZIC2
0.700 CausalMutation CLINVAR