Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
GGTGCTGCCTT | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. | 10214753 | 1999 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. | 10214753 | 1999 |
|||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. | 10214753 | 1999 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Minimum birth prevalence of mitochondrial respiratory chain disorders in children. | 12805096 | 2003 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Minimum birth prevalence of mitochondrial respiratory chain disorders in children. | 12805096 | 2003 |
|||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | Minimum birth prevalence of mitochondrial respiratory chain disorders in children. | 12805096 | 2003 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular findings in children with complex I deficiency. | 15576045 | 2004 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular findings in children with complex I deficiency. | 15576045 | 2004 |
|||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | Clinical and molecular findings in children with complex I deficiency. | 15576045 | 2004 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | The iron-sulphur protein Ind1 is required for effective complex I assembly. | 18497740 | 2008 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | The iron-sulphur protein Ind1 is required for effective complex I assembly. | 18497740 | 2008 |
|||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | The iron-sulphur protein Ind1 is required for effective complex I assembly. | 18497740 | 2008 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. | 19336460 | 2009 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. | 19336460 | 2009 |