Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77939446
rs77939446
RET
A 0.700 CausalMutation CLINVAR Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A. 27994876

2016
dbSNP: rs77939446
rs77939446
RET
A 0.700 CausalMutation CLINVAR Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden. 22270996

2012
dbSNP: rs77939446
rs77939446
RET
A 0.700 CausalMutation CLINVAR Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. 21986619

2012
dbSNP: rs77939446
rs77939446
RET
A 0.700 CausalMutation CLINVAR Protecting thyroid cancer patients from untoward effects of radioactive iodine treatment. 19731974

2009
dbSNP: rs77939446
rs77939446
RET
A 0.700 CausalMutation CLINVAR RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. 18206480

2008
dbSNP: rs77939446
rs77939446
RET
A 0.700 CausalMutation CLINVAR Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613

1998
dbSNP: rs77939446
rs77939446
RET
A 0.700 CausalMutation CLINVAR RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. 7849720

1994