Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
RET
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.710 GeneticVariation BEFREE Three different known RET germline mutations in exon 11 (codon 634), p.Cys634Arg (c1900 T-->C) (de novo case), p.Cys634Phe (c1901 G-->T), p.Cys634Trp (c1902 C-->G), were detected in three individuals with MEN2 phenotype. 19841562

2010