rs121913233, HRAS;LRRC56

N. diseases: 37
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
0.020 GeneticVariation BEFREE The single most common somatic RAS mutation is HRASQ61R (c.182A>G), reported in 4.6% to 11% of all MTCs. 27635947 2017
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.020 GeneticVariation BEFREE Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). 24828033 2014