Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation BEFREE There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p < 0.03). 18795243

2008

dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation BEFREE Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. 16053382

2005

dbSNP: rs75076352
rs75076352
RET
C 0.820 CausalMutation CLINVAR

dbSNP: rs75076352
rs75076352
RET
G 0.820 CausalMutation CLINVAR