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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | X | 50492002 | intergenic variant | G/A | snv | 0.39 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 50439186 | intron variant | G/A | snv | 0.46 | 0.720 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | X | 50460404 | intron variant | A/C | snv | 0.45 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 55307223 | intron variant | T/C | snv | 0.30 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 27745330 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 76935709 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 143568902 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | X | 50414986 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 5 | 457146 | non coding transcript exon variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | X | 50436751 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 14 | 64236600 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 4 | 156419058 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 1 | 212619442 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 71165720 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 55038095 | intergenic variant | C/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 129478919 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 |