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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
20 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.360 | 5 | 159333192 | intron variant | TTAGAG/GC | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
45 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
46 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.080 | 6 | 137219383 | 5 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 0.925 | 0.160 | 5 | 132653444 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.040 | 22 | 23895892 | non coding transcript exon variant | T/A | snv | 0.19 | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | X | 154534419 | missense variant | G/A | snv | 2.6E-03 | 4.8E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 19 | 50722987 | upstream gene variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 5 | 132650771 | intron variant | T/G | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 5 | 39202836 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
11 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |