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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 16 | 50634166 | 3 prime UTR variant | G/T | snv | 1.1E-02 | 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 | ||||
|
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 | 10 | 57337568 | intergenic variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
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 | |||
|
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 | X | 144310656 | upstream gene variant | C/T | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
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 | 7 | 118148430 | intergenic variant | T/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 100646940 | intron variant | A/G | snv | 6.6E-02 | 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 | 90971314 | intron variant | A/G | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 | 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 | 1 | 55528629 | intron variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | X | 40321436 | intergenic variant | C/T | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 21 | 17898627 | upstream gene variant | T/G | snv | 8.2E-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 | ||||
|
1 | 1.000 | 0.040 | X | 133235903 | downstream gene variant | T/C | snv | 0.11 | 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 | ||||
|
14 | 0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 | 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 | ||||
|
14 | 0.724 | 0.240 | X | 136949968 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 |