Gene: TGIF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909067
rs121909067
TGIF1
0.010 GeneticVariation BEFREE Here we show that a holoprosencephaly mutation (P63R) interferes with the ability of TGIF to act as a corepressor for c-Jun and Smad2, suggesting that this holoprosencephaly mutation may lead to a general defect in the TGIF protein. 17158784

2007
dbSNP: rs970137214
rs970137214
TGIF1
0.010 GeneticVariation BEFREE A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. 17584896

2007
dbSNP: rs199580307
rs199580307
TGIF1
0.010 GeneticVariation BEFREE A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. 16475235

2006
dbSNP: rs1315861554
rs1315861554
TGIF1
0.010 GeneticVariation BEFREE Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. 11810641

2002