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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.240 | 20 | 63637985 | downstream gene variant | G/A;C | snv | 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 | |||||
|
14 | 0.724 | 0.240 | 4 | 182824168 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||
|
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 | |||
|
14 | 0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 5 | 132475490 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 48035670 | intron variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 30538874 | intergenic variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
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 | 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 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
14 | 0.724 | 0.240 | 10 | 37303610 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.240 | 5 | 56148856 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | ||||
|
1 | 1.000 | 0.040 | 13 | 102211398 | intron variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 57337568 | intergenic variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | |||
|
1 | 1.000 | 0.040 | 14 | 23629422 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2011 | 2011 |