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: 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: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 9697690

1998
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
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: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). 10086344

1999
dbSNP: rs121913235
rs121913235
KIT
C 0.730 GeneticVariation CLINVAR Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region. 10224103

1999