rs149617956, MITF

N. diseases: 32
Disease: Benign melanocytic nevus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
0.030 GeneticVariation BEFREE We provided genetic evidence that Mitf E318K enhances BRaf V600E -induced nevus formation in vivo (mean nevus number for Mitf E318K , BRaf V600E vs Mitf WT , BRaf V600E , 68 vs 44, difference = 24, 95% CI = 9.1 to 38.9, P  = .006). 28376192 2017
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
0.030 GeneticVariation BEFREE Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 23774529 2014
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
0.030 GeneticVariation BEFREE In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). 24406078 2014