SEC16B, SEC16 homolog B, endoplasmic reticulum export factor, 89866
N. diseases: 15; N. variants: 4
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 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.925 | 0.040 | 1 | 177929986 | intron variant | G/C | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1 | 177933618 | missense variant | G/A;C | snv | 4.0E-06; 0.42 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.040 | 1 | 177929986 | intron variant | G/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 1 | 177929986 | intron variant | G/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 177933618 | missense variant | G/A;C | snv | 4.0E-06; 0.42 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 177933618 | missense variant | G/A;C | snv | 4.0E-06; 0.42 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 177925152 | intron variant | T/C | snv | 0.21 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 1 | 177929986 | intron variant | G/C | snv | 0.20 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.720 | 0.667 | 3 | 2009 | 2013 |