Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893827
rs104893827
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs104893827
rs104893827
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014

dbSNP: rs104893827
rs104893827
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013

dbSNP: rs1060503555
rs1060503555
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT

dbSNP: rs121908818
rs121908818
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010

dbSNP: rs121908818
rs121908818
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010

dbSNP: rs121908819
rs121908819
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010

dbSNP: rs121908819
rs121908819
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010

dbSNP: rs121908820
rs121908820
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010

dbSNP: rs121908820
rs121908820
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010

dbSNP: rs121908823
rs121908823
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010

dbSNP: rs121908823
rs121908823
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010

dbSNP: rs121908824
rs121908824
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. 21156949

2010

dbSNP: rs121908824
rs121908824
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 20154675

2010

dbSNP: rs1553619948
rs1553619948
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT

dbSNP: rs201743423
rs201743423
MAX
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Functional and in silico assessment of MAX variants of unknown significance. 26070438

2015

dbSNP: rs201743423
rs201743423
MAX
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014

dbSNP: rs201743423
rs201743423
MAX
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs201743423
rs201743423
MAX
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013

dbSNP: rs201743423
rs201743423
MAX
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. 22452945

2012

dbSNP: rs201743423
rs201743423
MAX
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. 21685915

2011

dbSNP: rs35460768
rs35460768
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT

dbSNP: rs397516441
rs397516441
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT

dbSNP: rs5030821
rs5030821
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT

dbSNP: rs5030833
rs5030833
VHL
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.700 GeneticVariation UNIPROT