Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma. 22541004

2012
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010
dbSNP: rs121908818
rs121908818
CIAO1 ; TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908821
rs121908821
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		G 0.700 CausalMutation CLINVAR Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010
dbSNP: rs121908821
rs121908821
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		G 0.700 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010
dbSNP: rs121908822
rs121908822
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121908826
rs121908826
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553437028
rs1553437028
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553437737
rs1553437737
CIAO1 ; TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1558752379
rs1558752379
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1558752468
rs1558752468
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1558756727
rs1558756727
CIAO1 ; TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs727503490
rs727503490
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		G 0.700 GeneticVariation CLINVAR Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association. 25800244

2015
dbSNP: rs780133289
rs780133289
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		A 0.700 CausalMutation CLINVAR TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. 22419703

2012
dbSNP: rs780133289
rs780133289
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		A 0.700 CausalMutation CLINVAR Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010
dbSNP: rs780133289
rs780133289
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		A 0.700 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010
dbSNP: rs886039439
rs886039439
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. 26960314

2016
dbSNP: rs886039439
rs886039439
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. 22419703

2012
dbSNP: rs886039439
rs886039439
TMEM127
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010