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 | 0.120 | 2 | 160021853 | intron variant | T/G | snv | 0.39 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 191040163 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 2 | 191029415 | intron variant | T/C | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 2 | 191028361 | intron variant | A/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 2 | 160028907 | missense variant | G/C | snv | 0.39 | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 11 | 101578627 | intron variant | G/A | snv | 0.48 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 31635993 | synonymous variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 6 | 32641817 | intron variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 6 | 32166733 | missense variant | G/A | snv | 0.16 | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.240 | 6 | 31172270 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.240 | 6 | 32178715 | intron variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.280 | 6 | 31344549 | intron variant | T/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.320 | 6 | 31113428 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.763 | 0.360 | 6 | 32945469 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.360 | 6 | 31634066 | non coding transcript exon variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.360 | 6 | 32368989 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.807 | 0.360 | 6 | 31090563 | intergenic variant | C/A | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.360 | 6 | 31133897 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.360 | 6 | 30952347 | missense variant | G/A | snv | 8.0E-02 | 9.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.807 | 0.360 | 6 | 31161533 | missense variant | C/T | snv | 7.0E-02 | 7.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.400 | 6 | 32293475 | missense variant | T/G | snv | 6.0E-02 | 6.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |