ATG16L1, autophagy related 16 like 1, 55054
N. diseases: 120; N. variants: 31
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.900 | 0.961 | 51 | 2007 | 2020 | ||||||
|
1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv |
|
Digestive System Diseases | 0.810 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 233275771 | non coding transcript exon variant | G/A | snv | 0.45 | 0.42 |
|
Digestive System Diseases | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||||
|
1.000 | 0.040 | 2 | 233264857 | intron variant | G/A;C | snv | 0.45; 4.0E-06 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.120 | 2 | 233260144 | intron variant | G/A;C | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.240 | 2 | 233276621 | intron variant | C/T | snv | 0.44 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 233252937 | intron variant | T/C | snv | 0.44 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 233252802 | intron variant | G/A | snv | 0.44 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 2 | 233282746 | missense variant | G/A;T | snv |
|
Digestive System Diseases | 0.060 | 1.000 | 6 | 2007 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 233274822 | intron variant | G/A | snv | 0.45 | 0.44 |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||||
|
1.000 | 0.040 | 2 | 233270020 | synonymous variant | G/A | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 2 | 233293259 | synonymous variant | T/C | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 2 | 233282094 | intron variant | T/C | snv | 0.54 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 2 | 233283605 | intron variant | C/T | snv | 0.26 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.080 | 2 | 233285017 | intron variant | A/T | snv | 5.1E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 2 | 233293054 | intron variant | G/C | snv | 7.8E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 2 | 233261751 | intron variant | G/A | snv | 0.62 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 233290815 | intron variant | G/A | snv | 0.53 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.040 | 2 | 233265070 | synonymous variant | C/T | snv | 1.2E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 2 | 233270018 | synonymous variant | C/T | snv | 9.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 2 | 233273764 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 2 | 233273776 | missense variant | G/C | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |