Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.760 GeneticVariation BEFREE Transformed (L576P)KIT melanocytes showed downregulation of MITF expression characteristic of melanoma initiating cells (MICs). 26973244

2016

dbSNP: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.760 GeneticVariation BEFREE The overall frequency of activating KIT gene mutations in acral lentiginous/mucosal melanomas was 15% (14 out of 91 cases), being the L576P mutation in exon 11 the most frequently detected (4 of 14 cases). 19718013

2009

dbSNP: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.760 GeneticVariation BEFREE Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009

dbSNP: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.760 GeneticVariation BEFREE L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007

dbSNP: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.760 GeneticVariation BEFREE Interestingly, the exon 11-activating mutation was L576P, the same mutation that characterizes the rare c-kit mutation-positive cases of malignant melanoma. 16741525

2006

dbSNP: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.760 GeneticVariation BEFREE Evaluation of the DNA sequencing electropherograms from all 3 cases of L576P mutation-positive melanoma suggests a selective loss of the normal allele. 16647948

2006