| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | 22282472 | 2012 |
|||
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Meckel syndrome. | 21368913 | 2011 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. | 20036350 | 2010 |
|||
|
0.800 | GeneticVariation | UNIPROT | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. | 23351400 | 2012 |
|||
|
0.700 | GeneticVariation | UNIPROT | Clinical utility gene card for: Meckel syndrome. | 21368913 | 2011 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical utility gene card for: Meckel syndrome. | 21368913 | 2011 |
||||
|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 |
|||
|
0.700 | GeneticVariation | UNIPROT | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 |
||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TTA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |