Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917878
rs121917878
SIX3 ; SIX3-AS1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121917879
rs121917879
SIX3 ; SIX3-AS1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121917880
rs121917880
SIX3 ; SIX3-AS1
C 0.800 CausalMutation CLINVAR

dbSNP: rs137853021
rs137853021
SIX3 ; SIX3-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs1553337688
rs1553337688
SIX3 ; SIX3-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1558420022
rs1558420022
SIX3 ; SIX3-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs387906867
rs387906867
SIX3 ; SIX3-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515499
rs397515499
ZIC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515502
rs397515502
SIX3 ; SIX3-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs989286015
rs989286015
SIX3 ; SIX3-AS1
0.700 GeneticVariation UNIPROT

dbSNP: rs121917878
rs121917878
SIX3 ; SIX3-AS1
0.800 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266

1999
dbSNP: rs121917879
rs121917879
SIX3 ; SIX3-AS1
0.800 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266

1999
dbSNP: rs121917880
rs121917880
SIX3 ; SIX3-AS1
0.800 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266

1999
dbSNP: rs137853021
rs137853021
SIX3 ; SIX3-AS1
0.800 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266

1999
dbSNP: rs121917881
rs121917881
SIX3 ; SIX3-AS1
0.700 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266

1999
dbSNP: rs780942050
rs780942050
SIX3
0.700 GeneticVariation UNIPROT Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266

1999
dbSNP: rs121917878
rs121917878
SIX3 ; SIX3-AS1
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: rs121917879
rs121917879
SIX3 ; SIX3-AS1
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: rs121917880
rs121917880
SIX3 ; SIX3-AS1
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: rs137853021
rs137853021
SIX3 ; SIX3-AS1
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: 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: rs780942050
rs780942050
SIX3
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: rs121917878
rs121917878
SIX3 ; SIX3-AS1
0.800 GeneticVariation UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651

2004
dbSNP: rs121917879
rs121917879
SIX3 ; SIX3-AS1
0.800 GeneticVariation UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651

2004
dbSNP: rs121917880
rs121917880
SIX3 ; SIX3-AS1
0.800 GeneticVariation UNIPROT Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. 15523651

2004