GALNT16, polypeptide N-acetylgalactosaminyltransferase 16, 57452
N. diseases: 11; N. variants: 11
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 69280329 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 69326758 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 14 | 69307269 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 14 | 69307269 | intron variant | G/A | snv | 0.15 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
14 | 69286652 | intron variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 69365784 | intergenic variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 69374185 | intergenic variant | A/G | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 69323038 | intron variant | T/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 69272319 | intron variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 14 | 69335147 | intron variant | C/A | snv | 0.40 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 14 | 69335147 | intron variant | C/A | snv | 0.40 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 14 | 69280517 | intron variant | A/G | snv | 0.35 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 14 | 69280517 | intron variant | A/G | snv | 0.35 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 14 | 69280517 | intron variant | A/G | snv | 0.35 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 14 | 69280517 | intron variant | A/G | snv | 0.35 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 14 | 69307268 | intron variant | C/T | snv | 6.3E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 14 | 69307268 | intron variant | C/T | snv | 6.3E-02 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 14 | 69307268 | intron variant | C/T | snv | 6.3E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |