Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909066
rs121909066
TGIF1
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: rs121909067
rs121909067
TGIF1
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: rs121909068
rs121909068
TGIF1
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: rs121909069
rs121909069
TGIF1
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: rs121909066
rs121909066
TGIF1
0.800 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638

2000
dbSNP: rs121909067
rs121909067
TGIF1
0.800 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638

2000
dbSNP: rs121909068
rs121909068
TGIF1
0.800 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638

2000
dbSNP: rs121909069
rs121909069
TGIF1
0.800 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638

2000
dbSNP: rs121909066
rs121909066
TGIF1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909067
rs121909067
TGIF1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909068
rs121909068
TGIF1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909069
rs121909069
TGIF1
T 0.800 CausalMutation CLINVAR

dbSNP: rs1555650923
rs1555650923
TGIF1
T 0.700 GeneticVariation CLINVAR Functional analysis of mutations in TGIF associated with holoprosencephaly. 16962354

2007
dbSNP: rs28939693
rs28939693
TGIF1
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: rs1555650923
rs1555650923
TGIF1
T 0.700 GeneticVariation CLINVAR Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. 11810641

2002
dbSNP: rs28939693
rs28939693
TGIF1
0.700 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638

2000
dbSNP: rs121909070
rs121909070
TGIF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs121917878
rs121917878
SIX3 ; SIX3-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs397515500
rs397515500
ZIC2
C 0.700 CausalMutation CLINVAR