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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 15 | 58396988 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 15 | 58406811 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 16 | 56978467 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 1.000 | 0.040 | 15 | 58401821 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 16 | 56984190 | downstream gene variant | G/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 15 | 58398555 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 15 | 58401661 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 1.000 | 0.080 | 19 | 44873027 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
6 | 1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2008 | 2012 | |||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2011 | 2012 | |||||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
7 | 0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2012 | 2012 | |||||
|
10 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
15 | 0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 3 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.040 | 16 | 67991092 | intron variant | G/A | snv | 0.17 | 0.17 | 0.700 | 1.000 | 3 | 2008 | 2012 | |||
|
5 | 0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2008 | 2012 | |||||
|
8 | 1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
7 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 0.700 | 1.000 | 3 | 2012 | 2012 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.700 | 1.000 | 2 | 2010 | 2012 | |||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
2 | 6 | 160668785 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 2 | 2010 | 2012 |