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 | 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 | 20 | 46128901 | missense variant | A/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
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 | |||
|
15 | 0.724 | 0.240 | 16 | 28329624 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 25725032 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 55528629 | intron variant | A/G | snv | 7.1E-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 | ||||
|
1 | 1.000 | 0.040 | X | 153516714 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.724 | 0.240 | 15 | 67171953 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 100646940 | intron variant | A/G | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 90971314 | intron variant | A/G | snv | 6.9E-02 | 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 | |||||
|
14 | 0.724 | 0.240 | X | 136583619 | downstream gene variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | X | 22651114 | intron variant | C/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 108079717 | missense variant | C/A | snv | 8.9E-02 | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.724 | 0.240 | 4 | 122639784 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 8 | 13940496 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 20 | 57896547 | downstream gene variant | C/G;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 157043390 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | X | 30958830 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.724 | 0.240 | X | 136949968 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 |