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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.040 | 6 | 160690668 | intergenic variant | C/T | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 7 | 99689016 | intron variant | C/T | snv | 2.5E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 9 | 104634643 | downstream gene variant | G/A | snv | 2.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 15 | 43464986 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 4 | 124644124 | intergenic variant | C/T | snv | 2.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 1 | 173026503 | intron variant | T/-;TT | delins | 9.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 5 | 117697919 | intergenic variant | TA/-;TATA;TATATA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 15 | 44116203 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 20 | 23635832 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 6 | 66873865 | intergenic variant | G/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 9 | 37590253 | intron variant | G/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 69096657 | missense variant | T/C | snv | 2.6E-03 | 2.8E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 7 | 99823462 | upstream gene variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 9 | 77012344 | regulatory region variant | C/T | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.040 | 6 | 160330499 | intergenic variant | G/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 1.000 | 3 | 2004 | 2012 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 0.667 | 3 | 2011 | 2019 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2005 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
7 | 0.807 | 0.200 | 9 | 22124473 | intron variant | C/T | snv | 0.47 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2017 |