Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.810 | GeneticVariation | BEFREE | Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO. | 31825089 | 2020 | |||||||
|
|
|
0.810 | GeneticVariation | UNIPROT | A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. | 27236920 | 2016 | |||||||
|
|
|
0.810 | GeneticVariation | UNIPROT | Identification of recurrent SMO and BRAF mutations in ameloblastomas. | 24859340 | 2014 | |||||||
|
|
|
T | 0.810 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.710 | GeneticVariation | GWASCAT | Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His). | 30374069 | 2018 | ||||||
|
|
|
0.710 | GeneticVariation | BEFREE | Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His). | 30374069 | 2018 | |||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Smoothened variants explain the majority of drug resistance in basal cell carcinoma. | 25759020 | 2015 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Vismodegib. | 22679179 | 2012 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Vismodegib. | 22679179 | 2012 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. | 19726788 | 2009 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. | 19726788 | 2009 | ||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR |