MANBA, mannosidase beta, 4126
N. diseases: 38; N. variants: 58
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 | 0.080 | 4 | 102631552 | 3 prime UTR variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.800 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.807 | 0.280 | 4 | 102630446 | downstream gene variant | A/G | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.800 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102635920 | missense variant | G/A;C | snv | 0.54; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102632769 | intron variant | C/T | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102633365 | missense variant | C/T | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102631273 | 3 prime UTR variant | A/G | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102633818 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 102633835 | intron variant | A/C;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 102631096 | 3 prime UTR variant | T/C | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102634646 | intron variant | G/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 102634664 | intron variant | G/A | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102658303 | intron variant | A/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 102658534 | intron variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 102632862 | intron variant | G/A | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102632951 | intron variant | C/G | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102632956 | intron variant | T/A | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102633104 | intron variant | T/G | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102633193 | intron variant | T/A | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102631933 | 3 prime UTR variant | A/G | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102631656 | 3 prime UTR variant | C/T | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102631673 | 3 prime UTR variant | G/A | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102633753 | intron variant | A/C | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102634260 | intron variant | A/C | snv | 0.55 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 102634462 | intron variant | C/A;G | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 102634076 | intron variant | T/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 |