Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.010 GeneticVariation BEFREE A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. 20153505

2010
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly seen in childhood-onset mastocytosis, and the frequency of KIT mutations in paediatric solitary mastocytoma is poorly documented. 24128084

2014
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly seen in childhood-onset mastocytosis, and the frequency of KIT mutations in paediatric solitary mastocytoma is poorly documented. 24128084

2014
dbSNP: rs2228145
rs2228145
IL6R
0.010 GeneticVariation BEFREE Analysis of the IL6R Asp358Ala polymorphism showed that carriers of the AA genotype had a 2·5-fold lower risk for mastocytosis than those with the AC or CC genotypes. 23078005

2013
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis. 10706069

2000
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis. 10706069

2000
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). 23807778

2014
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). 23807778

2014
dbSNP: rs121913521
rs121913521
KIT
0.010 GeneticVariation BEFREE Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. 23777495

2013
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. 23777495

2013
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. 23777495

2013
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis. 16183119

2006
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis. 16183119

2006
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Germline KIT mutations associated with mastocytosis drive a well-differentiated mast cell phenotype distinct to that of somatic KIT D816V disease, the oncogenic potential of which might be influenced by SCF and selective KIT splicing. 24582309

2014
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE Germline KIT mutations associated with mastocytosis drive a well-differentiated mast cell phenotype distinct to that of somatic KIT D816V disease, the oncogenic potential of which might be influenced by SCF and selective KIT splicing. 24582309

2014
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. 20471335

2010
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. 20471335

2010
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Most patients with mastocytosis exhibit the D816V point mutation in the tyrosine kinase domain of the transmembrane receptor protein Kit, leading to its constitutive activation in bone marrow or lesional skin tissue. 16931579

2006
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE Most patients with mastocytosis exhibit the D816V point mutation in the tyrosine kinase domain of the transmembrane receptor protein Kit, leading to its constitutive activation in bone marrow or lesional skin tissue. 16931579

2006
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE One activating Kit mutation substitutes a valine for aspartic acid at codon 816 (D816V) and is frequently observed in human mastocytosis. 8962111

1996
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE One activating Kit mutation substitutes a valine for aspartic acid at codon 816 (D816V) and is frequently observed in human mastocytosis. 8962111

1996
dbSNP: rs5743708
rs5743708
TLR2
0.010 GeneticVariation BEFREE Our results suggest that the R753Q polymorphism of the TLR-2 gene may be involved in the pathogenesis of mastocytosis. 29909409

2018
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Our study thus supports a role for mast cells and D816V-KIT activity in IL-6 dysregulation in mastocytosis and provides insights into the intracellular mechanisms. 30948489

2020
dbSNP: rs121913682
rs121913682
KIT
0.100 GeneticVariation BEFREE Our study thus supports a role for mast cells and D816V-KIT activity in IL-6 dysregulation in mastocytosis and provides insights into the intracellular mechanisms. 30948489

2020
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100

2010