Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Genotype-specific progression of hereditary medullary thyroid cancer. 29656518

2018
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. 25810047

2015
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR The clinical spectrum of RET proto-oncogene mutations in codon 790. 23756355

2013
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China. 23210566

2012
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma. 21688339

2012
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Failure of pentagastrin-stimulated calcitonin testing in early manifestation of familial medullary thyroid cancer. 22965292

2012
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene. 22403753

2012
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer. 21810974

2011
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690

2009
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Familial prevalence and age of RET germline mutations: implications for screening. 18062802

2008
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. 17895320

2007
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Hereditary medullary thyroid cancer in Slovenia--genotype-phenotype correlations. 16865646

2006
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations. 12409662

2002
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Papillary thyroid carcinoma in patients with RET proto-oncogene germline mutation. 12193298

2002
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome? 12490841

2002
dbSNP: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 9506724

1998