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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.900 | 0.944 | 36 | 2007 | 2019 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.100 | 0.958 | 24 | 2008 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.800 | 15 | 2001 | 2020 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 1.000 | 12 | 2005 | 2017 | |||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.890 | 1.000 | 12 | 2007 | 2019 | |||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.100 | 1.000 | 11 | 2009 | 2019 | ||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.760 | 1.000 | 11 | 2015 | 2019 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.100 | 1.000 | 10 | 2008 | 2019 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.100 | 1.000 | 10 | 2008 | 2017 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.090 | 1.000 | 9 | 2012 | 2019 | |||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.090 | 1.000 | 9 | 2008 | 2019 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.770 | 0.875 | 8 | 2012 | 2019 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.070 | 1.000 | 7 | 2010 | 2019 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.060 | 0.833 | 6 | 2010 | 2018 | ||||
|
15 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.720 | 1.000 | 6 | 2015 | 2019 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.060 | 0.833 | 6 | 2011 | 2019 | |||||
|
5 | 0.851 | 0.160 | 9 | 22098620 | intron variant | A/G | snv | 0.40 | 0.820 | 1.000 | 6 | 2007 | 2018 | ||||
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.750 | 1.000 | 6 | 2009 | 2018 | |||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.060 | 1.000 | 6 | 2013 | 2018 | ||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.050 | 1.000 | 5 | 2011 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 19742712 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 5 | 2013 | 2018 | ||||
|
8 | 0.776 | 0.120 | 10 | 44280376 | downstream gene variant | C/T | snv | 0.25 | 0.740 | 1.000 | 5 | 2007 | 2019 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.050 | 1.000 | 5 | 2015 | 2019 | ||||
|
3 | 0.925 | 0.080 | 21 | 34221526 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 5 | 2015 | 2018 | ||||
|
10 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 0.050 | 1.000 | 5 | 2011 | 2015 |