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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | X | 48688403 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 13 | 28018553 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 13 | 95061461 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
3 | 0.882 | 0.080 | 3 | 49026677 | intron variant | A/G | snv | 8.3E-02 | 7.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 4 | 182915501 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 8 | 6465757 | intron variant | G/A | snv | 0.28 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 7 | 87601026 | 5 prime UTR variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.030 | 1.000 | 3 | 2012 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.040 | 6 | 46596080 | missense variant | A/G;T | snv | 0.35 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.882 | 0.160 | 9 | 87620879 | intron variant | A/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 3 | 194865359 | intergenic variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 65772696 | regulatory region variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 16 | 55486666 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 2 | 133680388 | intergenic variant | C/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 |