Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. | 26960314 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association. | 25800244 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma. | 22541004 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. | 22419703 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. | 22419703 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. | 21156949 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. | 20154675 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. | 21156949 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. | 20154675 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. | 21156949 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. | 21156949 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |