| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |