Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77939446
rs77939446
RET
0.740 GeneticVariation BEFREE In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism. 19475497

2009
dbSNP: rs77939446
rs77939446
RET
0.740 GeneticVariation BEFREE Direct double-stranded fluorescent sequencing revealed typical germline heterozygous MTC risk RET mutations in 3/56 (5.4%) female HD patients: Cys609Tyr, Cys620Arg (both exon 10) and Tyr791Phe (exon 13). 17021738

2006
dbSNP: rs77939446
rs77939446
RET
0.740 GeneticVariation BEFREE Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma. 16343103

2005
dbSNP: rs77939446
rs77939446
RET
A 0.740 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs77939446
rs77939446
RET
0.740 GeneticVariation BEFREE Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. 7633441

1995