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 | 0.040 | 12 | 21250045 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 84338144 | intergenic variant | C/T | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.080 | 16 | 56959249 | upstream gene variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 11 | 26141193 | intergenic variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.320 | 3 | 169763483 | downstream gene variant | C/G | snv | 0.38 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 99946004 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 100505900 | upstream gene variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 15 | 44272494 | intergenic variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 6 | 126276990 | intergenic variant | A/G | snv | 1.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | X | 129601222 | regulatory region variant | T/C | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 7 | 106769006 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.040 | 6 | 160690668 | intergenic variant | C/T | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 | 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 | |||||
|
4 | 0.851 | 0.200 | 1 | 156882671 | downstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | ||||
|
5 | 0.827 | 0.160 | 17 | 1757507 | upstream gene variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 6 | 160330499 | intergenic variant | G/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 9 | 104840491 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2020 | 2020 |