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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2009 | |||||
|
17 | 0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
14 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||
|
7 | 0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
15 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.200 | 10 | 101219450 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.200 | 11 | 124870650 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 3 | 128928 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 101214115 | TF binding site variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
21 | 0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
9 | 0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 131073 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 56359144 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 10 | 62813562 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
9 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 101214352 | TF binding site variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.776 | 0.280 | 5 | 1411242 | splice donor variant | C/T | snv | 6.4E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 101236039 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |