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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 25081736 | intergenic variant | G/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 88059610 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 12 | 56075401 | upstream gene variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | X | 123307628 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 5 | 96956300 | intron variant | T/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 1 | 28814643 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | X | 38140399 | intron variant | A/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 18 | 75338379 | intergenic variant | G/A | snv | 9.7E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.040 | 11 | 115226236 | intron variant | A/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 99982441 | intron variant | A/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 11 | 99992669 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 6 | 25590813 | intron variant | C/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 23225130 | regulatory region variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 100002678 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 8 | 19673452 | intron variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 5 | 158883623 | intron variant | A/G | snv | 0.40 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 48680820 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 3 | 181593779 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 3 | 70970599 | non coding transcript exon variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 2 | 25161244 | missense variant | T/C | snv | 5.4E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 |