Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | SusceptibilityMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TC | 0.700 | GeneticVariation | CLINVAR | "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met." | 10764043 | 2000 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | "Hypertrichosis ""cubiti"" with facial asymmetry." | 7802037 | 1994 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | "Hypertrichosis ""cubiti"" with facial asymmetry." | 7802037 | 1994 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | "Hypertrichosis ""cubiti"" with facial asymmetry." | 7802037 | 1994 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. | 23632999 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. | 25884337 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. | 25884337 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. | 25884337 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | 4-Hydroxybutyric aciduria. | 7726383 | 1994 |
|||
|
CG | 0.700 | GeneticVariation | CLINVAR | 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. | 25379658 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. | 25379658 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. | 19576302 | 2010 |