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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.040 | 1.000 | 4 | 2012 | 2014 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.040 | 1.000 | 4 | 1999 | 2009 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2001 | 2018 | |||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.030 | 1.000 | 3 | 2001 | 2002 | |||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2014 | 2015 | |||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
4 | 0.882 | 0.040 | 5 | 63960164 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
2 | 1.000 | 0.040 | 4 | 28686220 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 8 | 91890204 | intron variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 14 | 74771067 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 23318435 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 19 | 32405810 | 5 prime UTR variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 23346844 | intron variant | C/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 11 | 47164873 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 113503291 | intergenic variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 12223920 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 9 | 23341717 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |