Source: INFERRED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. | 10411937 | 1999 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |