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 | 2 | 118981487 | missense variant | T/C | snv | 8.3E-02 | 0.13 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
3 | 0.882 | 0.120 | 10 | 52771701 | upstream gene variant | G/A | snv | 0.30 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
2 | 0.925 | 0.080 | 4 | 38796574 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2010 | 2010 | |||
|
4 | 0.851 | 0.280 | 2 | 191153045 | upstream gene variant | T/C | snv | 0.54 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
8 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 230170151 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 230173117 | non coding transcript exon variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 80629494 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 58583857 | 3 prime UTR variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 32850997 | missense variant | T/C | snv | 0.20 | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 12 | 8533837 | 3 prime UTR variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 8535216 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 12 | 47891631 | intron variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 |