| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.850 | CausalMutation | CLINVAR | Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing. | 23536913 | 2013 |
|||
|
A | 0.850 | CausalMutation | CLINVAR | Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. | 15126527 | 2004 |
|||
|
T | 0.850 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing. | 23536913 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. | 17493233 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. | 15126527 | 2004 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. | 11029463 | 2001 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. | 8699958 | 1996 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |