Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
TT | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. | 26694549 | 2016 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. | 27799064 | 2016 |
|||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. | 26694549 | 2016 |
|||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. | 26694549 | 2016 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. | 29178648 | 2017 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. | 26694549 | 2016 |
|||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. | 26694549 | 2016 |