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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 22 | 18167094 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | 22 | 30185733 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 22 | 36902302 | intergenic variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
11 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.827 | 0.200 | 22 | 37155567 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 21 | 41426103 | 5 prime UTR variant | C/A | snv | 0.14 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
1 | 1.000 | 0.080 | 21 | 38466902 | intron variant | C/T | snv | 0.11 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 1.000 | 0.080 | 21 | 44910354 | missense variant | G/A;C | snv | 2.4E-05; 1.6E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.320 | 21 | 41426138 | 5 prime UTR variant | G/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 21 | 41426246 | 5 prime UTR variant | A/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.240 | 21 | 44227538 | 3 prime UTR variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.360 | 21 | 44195678 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
18 | 0.695 | 0.480 | 21 | 25572410 | intron variant | T/A | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.200 | 21 | 42416281 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.040 | 1.000 | 4 | 2010 | 2015 | |||
|
8 | 0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 | 0.820 | 1.000 | 4 | 2011 | 2016 |