Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. | 30614526 | 2019 |
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|
G | 0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. | 30614526 | 2019 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. | 30614526 | 2019 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. | 30614526 | 2019 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. | 16380913 | 2005 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. | 16380913 | 2005 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. | 16380913 | 2005 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |