rs1188536960, SORD

N. diseases: 5
Disease: Medullary carcinoma of thyroid ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.010 GeneticVariation BEFREE While the frequency of non-coding, intronic polymorphisms did not differ in MTC patients compared with a control population, an accumulation of amino-acid coding polymorphisms (S163P in SDHB as well as G12S and H50R in SDHD) was found among MTC patients especially patients with familial tumors, suggesting a functional connection of coding SDH polymorphisms to activating Ret mutations. 16322339 2005