Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
GG | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in NOTCH1 cause Adams-Oliver syndrome. | 25132448 | 2014 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in NOTCH1 cause Adams-Oliver syndrome. | 25132448 | 2014 |
|||
|
G | 0.800 | GeneticVariation | CLINVAR | Mutations in NOTCH1 cause Adams-Oliver syndrome. | 25132448 | 2014 |
|||
|
0.800 | GeneticVariation | UNIPROT | Mutations in NOTCH1 cause Adams-Oliver syndrome. | 25132448 | 2014 |
||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Mutations in NOTCH1 cause Adams-Oliver syndrome. | 25132448 | 2014 |
|||
|
0.800 | GeneticVariation | UNIPROT | Mutations in NOTCH1 cause Adams-Oliver syndrome. | 25132448 | 2014 |
||||
|
A | 0.700 | CausalMutation | CLINVAR | Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. | 25963545 | 2015 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. | 25963545 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. | 29924900 | 2018 |