Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.020 | 1.000 | 2 | 2011 | 2016 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 2 | 219420587 | synonymous variant | C/T | snv | 0.33 | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 12 | 1727813 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 19 | 18388612 | missense variant | C/G;T | snv | 0.24; 9.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.040 | 1.000 | 4 | 2007 | 2009 | |||
|
4 | 12 | 6044348 | synonymous variant | A/G | snv | 0.31 | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 10 | 18156159 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 101803258 | intron variant | C/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 100794914 | intron variant | C/T | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 11 | 47340914 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 94254865 | intron variant | C/G | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 9 | 109998608 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 62182180 | downstream gene variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 74261866 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 16239678 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 1.000 | 0.080 | 11 | 47641497 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.020 | 0.500 | 2 | 2012 | 2018 | ||||
|
1 | 12 | 121473799 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 114940232 | intergenic variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 |