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 The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects. 7608256

1995
dbSNP: rs79781594
rs79781594
RET
T 0.710 CausalMutation CLINVAR Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2. 7670926

1995
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936

1995
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936

1995
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 7915165

1994
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 7915165

1994
dbSNP: rs79781594
rs79781594
RET
T 0.710 CausalMutation CLINVAR Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. 7916559

1994
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 8099202

1993
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. 8103403

1993
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. 8625130

1995
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family. 9003111

1996
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR RET in human development and oncogenesis. 9174404

1997
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR RET in human development and oncogenesis. 9174404

1997
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. 9230192

1997
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. 9230192

1997
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613

1998
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613

1998
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene. 9498388

1998
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene. 9498388

1998
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma. 9699127

1998
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan. 9839497

1998
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan. 9839497

1998
dbSNP: rs79781594
rs79781594
RET
T 0.710 CausalMutation CLINVAR Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan. 9839497

1998
dbSNP: rs79781594
rs79781594
RET
C 0.710 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991

1998
dbSNP: rs79781594
rs79781594
RET
A 0.710 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991

1998