Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913514
rs121913514
KIT
G 0.700 GeneticVariation CLINVAR Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor. 17699867

2007
dbSNP: rs1560418178
rs1560418178
KIT
A 0.700 GeneticVariation CLINVAR Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. 17124503

2007
dbSNP: rs993022333
rs993022333
KIT
T 0.700 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007
dbSNP: rs1057520031
rs1057520031
KIT
G 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1057520031
rs1057520031
KIT
C 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1057520032
rs1057520032
KIT
C 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1057520033
rs1057520033
KIT
C 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1057520034
rs1057520034
KIT
AA 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1057520035
rs1057520035
KIT
TT 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1060502543
rs1060502543
KIT
T 0.700 CausalMutation CLINVAR A new familial GIST identified. 17001171

2006
dbSNP: rs1560418178
rs1560418178
KIT
A 0.700 GeneticVariation CLINVAR New mutations of KIT gene in two Chinese patients with piebaldism. 17107413

2006
dbSNP: rs200375589
rs200375589
KIT
T 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1060502543
rs1060502543
KIT
T 0.700 CausalMutation CLINVAR Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling. 15897563

2005
dbSNP: rs121913509
rs121913509
KIT
A 0.700 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
dbSNP: rs121913514
rs121913514
KIT
G 0.700 GeneticVariation CLINVAR Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. 15685537

2005
dbSNP: rs1060502543
rs1060502543
KIT
T 0.700 CausalMutation CLINVAR A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. 9797363

1998
dbSNP: rs1560418178
rs1560418178
KIT
A 0.700 GeneticVariation CLINVAR Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. 7529964

1995
dbSNP: rs1057520032
rs1057520032
KIT
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502521
rs1060502521
KIT
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913234
rs121913234
KIT
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913685
rs121913685
KIT
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553887262
rs1553887262
KIT
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1553887960
rs1553887960
KIT
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560395607
rs1560395607
KIT
C 0.700 CausalMutation CLINVAR

dbSNP: rs1560417385
rs1560417385
KIT
C 0.700 GeneticVariation CLINVAR