Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917881
rs121917881
SIX3 ; SIX3-AS1
0.700 GeneticVariation UNIPROT The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 20531442

2010
dbSNP: rs121917881
rs121917881
SIX3 ; SIX3-AS1
0.700 GeneticVariation UNIPROT Mutations in the human SIX3 gene in holoprosencephaly are loss of function. 18791198

2008
dbSNP: rs121917881
rs121917881
SIX3 ; SIX3-AS1
0.700 GeneticVariation UNIPROT SIX3 mutations with holoprosencephaly. 17001667

2006
dbSNP: rs121917881
rs121917881
SIX3 ; SIX3-AS1
0.700 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: rs121917881
rs121917881
SIX3 ; SIX3-AS1
0.700 GeneticVariation UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651

2004
dbSNP: rs121917881
rs121917881
SIX3 ; SIX3-AS1
0.700 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266

1999