Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.850 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
ACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. | 7529964 | 1995 |
|||
|
0.850 | GeneticVariation | UNIPROT | Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. | 9438854 | 1998 |
||||
|
0.850 | GeneticVariation | UNIPROT | Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. | 9697690 | 1998 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. | 9797363 | 1998 |
|||
|
0.740 | GeneticVariation | BEFREE | The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). | 10086344 | 1999 |
||||
|
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 |