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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 1 | 15418527 | intron variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 19 | 51749131 | intron variant | C/T | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 16 | 1347814 | synonymous variant | C/T | snv | 0.44 | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 10 | 103279484 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 18 | 37621190 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.851 | 0.120 | 7 | 87584585 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 197853864 | intergenic variant | T/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 5 | 88370488 | intron variant | C/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 102981357 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 41043300 | upstream gene variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 84966628 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 10 | 102875591 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 8 | 38057134 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 10 | 101791382 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 7612705 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.160 | 17 | 45777136 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 18 | 37635554 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 226871905 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 52473703 | intron variant | G/A;C | snv | 1.0E-04; 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 8 | 142235609 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 8 | 142244830 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 |