Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 30980518 | 2019 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. | 26637980 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. | 26637980 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |