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 | 15 | 43382233 | intron variant | TAAAAGAAAAA/-;TAAAAGAAAAATAAAAGAAAAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 0.882 | 0.200 | 7 | 80671133 | stop gained | T/G | snv | 6.2E-03 | 2.6E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||
|
2 | 16 | 56978467 | intron variant | T/G | snv | 0.36 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
8 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
3 | 16 | 56983090 | intron variant | T/G | snv | 0.10 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
4 | 1 | 156730859 | intron variant | T/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 16 | 68082115 | intron variant | T/G | snv | 0.18 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 1 | 230171476 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
6 | 1.000 | 0.040 | 2 | 20983311 | regulatory region variant | T/G | snv | 0.27 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
2 | 8 | 19964304 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 19 | 19064943 | intron variant | T/G | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 19 | 44644419 | intron variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 11 | 115361021 | intron variant | T/G | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 15 | 58450532 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
4 | 11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 72664282 | intron variant | T/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19939160 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 21574627 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 104921949 | intron variant | T/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 13 | 33202766 | intron variant | T/G | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 125472284 | intron variant | T/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 8 | 19962025 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 |