GALNT2, polypeptide N-acetylgalactosaminyltransferase 2, 2590
N. diseases: 45; N. variants: 52
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 7 | 2008 | 2019 | ||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 5 | 2008 | 2018 | ||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1.000 | 0.040 | 1 | 230171436 | intron variant | T/A;C;G | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
Cardiovascular Diseases | 0.710 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 5 | 2008 | 2013 | ||||||||
|
1 | 230169168 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
1 | 230164840 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||||
|
1 | 230164840 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||||
|
1 | 230171476 | intron variant | T/G | snv | 0.72 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1 | 230160042 | intron variant | A/G;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 230160042 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 230160042 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 230160042 | intron variant | A/G;T | snv |
|
Nutritional and Metabolic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 230280653 | 3 prime UTR variant | G/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 230280653 | 3 prime UTR variant | G/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1 | 230160406 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 230169168 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 230169168 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 230164735 | intron variant | C/G;T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |