Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. 11230481

2001
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618. 15164440

2004
dbSNP: rs79781594
rs79781594
RET
T 0.710 CausalMutation CLINVAR Pheochromocytoma penetrance varies by RET mutation in MEN 2A. 18063059

2007
dbSNP: rs79781594
rs79781594
RET
T 0.710 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401

2009
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. 20516206

2010
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011
dbSNP: rs79781594
rs79781594
RET
T 0.710 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987

2011
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma. 22068382

2012
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma. 22068382

2012
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese. 25628771

2015
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese. 25628771

2015
dbSNP: rs79781594
rs79781594
RET
0.710 GeneticVariation BEFREE Two families with C618S/Y mutation were categorized as unclassified multiple endocrine neoplasia type 2. 26254625

2016