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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
1 | 1.000 | 0.040 | 12 | 30538874 | intergenic variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 67982978 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 25725032 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.724 | 0.240 | 1 | 81771892 | intron variant | C/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
14 | 0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 23629422 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 13940496 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.724 | 0.240 | 20 | 63637985 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | X | 136583619 | downstream gene variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.724 | 0.240 | 21 | 39094644 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 40321436 | intergenic variant | C/T | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 29304235 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.100 | 0.900 | 10 | 2005 | 2018 | |||
|
14 | 0.724 | 0.240 | 1 | 172869708 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 16948892 | synonymous variant | A/C | snv | 4.2E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 55528629 | intron variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.724 | 0.240 | 2 | 233276621 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.716 | 0.240 | 9 | 4981866 | upstream gene variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 109043821 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 65238540 | intron variant | G/A | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 21 | 45232575 | upstream gene variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.716 | 0.280 | 3 | 49534707 | 3 prime UTR variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 |