SMUG1, single-strand-selective monofunctional uracil-DNA glycosylase 1, 23583
N. diseases: 1034; N. variants: 6
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 | 0.040 | 12 | 54148144 | intron variant | G/A | snv | 4.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 12 | 54148144 | intron variant | G/A | snv | 4.5E-03 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
12 | 54138553 | intron variant | G/A | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 54138553 | intron variant | G/A | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 12 | 54187830 | 5 prime UTR variant | T/C | snv | 0.47 |
|
Eye Diseases | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||||
|
0.882 | 0.080 | 12 | 54182178 | missense variant | T/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 12 | 54182178 | missense variant | T/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 12 | 54182178 | missense variant | T/A | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 12 | 54183775 | missense variant | T/C | snv | 7.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 12 | 54187830 | 5 prime UTR variant | T/C | snv | 0.47 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 12 | 54187830 | 5 prime UTR variant | T/C | snv | 0.47 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 12 | 54182241 | missense variant | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 12 | 54182241 | missense variant | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 12 | 54182241 | missense variant | C/T | snv | 8.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 |