Gene: TMEM127 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1215337884
rs1215337884
TMEM127
T 0.700 GeneticVariation CLINVAR Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. 26960314

2016
dbSNP: rs886039439
rs886039439
TMEM127
T 0.700 CausalMutation CLINVAR Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. 26960314

2016
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
T 0.700 CausalMutation CLINVAR Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma. 22541004

2012
dbSNP: rs121908814
rs121908814
CIAO1 ; TMEM127
A 0.700 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
T 0.700 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010
dbSNP: rs121908830
rs121908830
TMEM127
A 0.700 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010
dbSNP: rs121908830
rs121908830
TMEM127
A 0.700 CausalMutation CLINVAR Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010
dbSNP: rs587781773
rs587781773
TMEM127
G 0.700 CausalMutation CLINVAR