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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 12 | 53299748 | missense variant | A/G;T | snv | 0.99; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 6 | 30897427 | synonymous variant | A/C | snv | 0.24 | 0.18 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 6 | 30887474 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 9 | 94926763 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.040 | 7 | 44376473 | downstream gene variant | G/C;T | snv | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 12 | 53299748 | missense variant | AA/GC | mnv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.040 | 7 | 70555174 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 6 | 168540944 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.040 | 6 | 32377506 | intron variant | C/A;T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.040 | 6 | 31291060 | intron variant | G/A | snv | 0.44 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
6 | 0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.120 | 12 | 56007301 | upstream gene variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
15 | 0.724 | 0.280 | 6 | 159688224 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 6 | 159688219 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.040 | 6 | 31869289 | intron variant | C/T | snv | 2.9E-02 | 4.5E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 |