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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.200 | 21 | 33343393 | missense variant | G/C | snv | 0.18 | 0.16 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
17 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
9 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 5 | 132678194 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.040 | 5 | 132678271 | intron variant | A/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 132680862 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.752 | 0.360 | 5 | 159333192 | intron variant | TTAGAG/GC | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.160 | 22 | 37576621 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 22 | 24438763 | splice region variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.200 | 3 | 9918386 | missense variant | C/T | snv | 0.46 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.040 | 22 | 23895892 | non coding transcript exon variant | T/A | snv | 0.19 | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.160 | X | 154533025 | missense variant | A/G | snv | 5.3E-04 | 1.5E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 6385564 | missense variant | A/C;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
20 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
14 | 0.742 | 0.320 | 12 | 68156382 | intron variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.763 | 0.320 | 12 | 68154443 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 12 | 68154004 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
27 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.080 | 12 | 68158711 | intron variant | CGAG/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 |