Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913517
rs121913517
KIT
A 0.850 CausalMutation CLINVAR

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

dbSNP: rs1560417396
rs1560417396
KIT
AA 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417427
rs1560417427
KIT
CC 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417438
rs1560417438
KIT
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417535
rs1560417535
KIT
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417642
rs1560417642
KIT
GACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417666
rs1560417666
KIT
ACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417673
rs1560417673
KIT
CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT 0.700 GeneticVariation CLINVAR

dbSNP: rs1560420761
rs1560420761
KIT
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776804
rs587776804
KIT
A 0.700 CausalMutation CLINVAR

dbSNP: rs869025568
rs869025568
KIT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR GIST cells carrying KIT -del557-558/T670I or KIT -InsAY502-503/V654A mutations were resistant to imatinib, while PKC412 significantly inhibited autophosporylation of these mutants. 15685537

2005
dbSNP: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR GIST cells carrying KIT -del557-558/T670I or KIT -InsAY502-503/V654A mutations were resistant to imatinib, while PKC412 significantly inhibited autophosporylation of these mutants. 15685537

2005
dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro). 27771813

2017
dbSNP: rs121913507
rs121913507
KIT
0.020 GeneticVariation BEFREE A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of adult-onset disease, and another three with an internal tandem duplication (p.A502_Y503dup) in exon 9, previously described in gastrointestinal stromal tumour. 24128084

2014
dbSNP: rs121913682
rs121913682
KIT
0.020 GeneticVariation BEFREE A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of adult-onset disease, and another three with an internal tandem duplication (p.A502_Y503dup) in exon 9, previously described in gastrointestinal stromal tumour. 24128084

2014
dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE A mouse model harbouring a germline Kit K641E mutant was created to model familial GIST. 19453770

2009