Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 20531442 2010
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198 2008
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT SIX3 mutations with holoprosencephaly. 17001667 2006
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788 2004
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651 2004
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
0.800 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
dbSNP: rs121917878
rs121917878
Entrez Id: 6496;100506108
Gene Symbol: SIX3;SIX3-AS1
SIX3;SIX3-AS1
CUI: C1834877
Disease:
HOLOPROSENCEPHALY 2 (disorder)
G 0.800 CausalMutation CLINVAR