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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 11 | 61887833 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 152330909 | intron variant | A/G | snv | 0.37 | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 0.040 | 9 | 22115590 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.120 | 22 | 23898914 | non coding transcript exon variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 22696108 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.120 | 9 | 117702042 | upstream gene variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 6 | 11784092 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.120 | 1 | 179354603 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.320 | 16 | 88643329 | 3 prime UTR variant | C/T | snv | 0.49 | 0.48 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
7 | 0.807 | 0.160 | 7 | 80677034 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 12 | 10158964 | 3 prime UTR variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.807 | 0.160 | 10 | 95038992 | missense variant | T/C | snv | 8.3E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 17 | 4734591 | 3 prime UTR variant | G/A | snv | 0.35 | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.040 | 10 | 89247582 | missense variant | C/T | snv | 9.5E-02 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 |