Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
GCTATGCTAT | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. | 11170888 | 2001 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. | 11170888 | 2001 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. | 11181649 | 2001 |
|||
|
GC | 0.700 | CausalMutation | CLINVAR | The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. | 11181649 | 2001 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. | 11181649 | 2001 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. | 11181649 | 2001 |
|||
|
C | 0.800 | GeneticVariation | CLINVAR | Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. | 14680978 | 2003 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. | 14680978 | 2003 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. | 15359379 | 2004 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. | 15359379 | 2004 |