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 | 0.160 | 19 | 46705224 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 12 | 9757568 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 25078886 | intron variant | A/T | snv | 0.35 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 14 | 98032614 | intergenic variant | A/G | snv | 0.40 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 7 | 50959497 | intron variant | A/C | snv | 0.96 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 13 | 75752146 | intron variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 7 | 28189423 | intron variant | G/A | snv | 0.86 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 22 | 30185733 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 2 | 28423934 | upstream gene variant | G/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 16 | 75213347 | intergenic variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.160 | 17 | 40614034 | intergenic variant | T/C | snv | 0.69 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 7 | 26852046 | intron variant | T/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 170063801 | regulatory region variant | T/C | snv | 0.71 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.360 | 6 | 32440750 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.160 | 6 | 126377573 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.440 | 10 | 6348488 | intron variant | G/A | snv | 0.79 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.200 | 21 | 42416281 | intron variant | A/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 16 | 11148049 | intron variant | A/G | snv | 0.18 | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 32660056 | splice region variant | A/G | snv | 0.31 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.200 | 10 | 8060309 | intron variant | G/A | snv | 0.51 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 26423332 | non coding transcript exon variant | C/T | snv | 0.54 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.200 | 2 | 173598126 | intergenic variant | T/A | snv | 0.20 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 6 | 30133199 | upstream gene variant | TT/-;T;TTT;TTTT | delins | 0.14 | 0.710 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.160 | 12 | 55991020 | non coding transcript exon variant | G/A | snv | 0.40 | 0.710 | 1.000 | 1 | 2019 | 2019 |