KIT, KIT proto-oncogene, receptor tyrosine kinase, 3815
N. diseases: 715; N. variants: 92
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 4 | 54728121 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 8 | 1991 | 2000 | ||||||||
|
0.925 | 0.200 | 4 | 54727515 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 8 | 1991 | 2000 | ||||||||
|
1.000 | 0.120 | 4 | 54736552 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 8 | 1991 | 2000 | ||||||||
|
1.000 | 0.120 | 4 | 54727519 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 8 | 1991 | 2000 | ||||||||
|
1.000 | 0.120 | 4 | 54727520 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.120 | 4 | 54733094 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 8 | 1991 | 2000 | ||||||||
|
1.000 | 0.120 | 4 | 54729344 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 54728055 | frameshift variant | AA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 54727448 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 54695696 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 54727928 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 4 | 54727907 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2001 | 2006 |