Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. | 10369266 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. | 10369266 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. | 10369266 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. | 10369266 | 1999 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. | 10369266 | 1999 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. | 10369266 | 1999 | |||||||
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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 | |||||||
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0.800 | GeneticVariation | UNIPROT | Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. | 15523651 | 2004 | |||||||
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|
|
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 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. | 15523651 | 2004 | |||||||
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|
|
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 |