rs121913499, IDH1

N. diseases: 51
Disease: melanoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.020 GeneticVariation BEFREE Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one). 30003571 2018
melanoma
CUI: C0025202
Disease: melanoma
0.020 GeneticVariation BEFREE A somatic, heterozygous IDH1 c.C394T (p.R132C) mutation was identified in one human melanoma metastasis to the lung. 20603105 2010