Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67124778 | intron variant | T/C | snv | 0.77 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67135449 | intron variant | G/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67219915 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 172929237 | intron variant | T/C | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67262335 | downstream gene variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2006 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 40431081 | non coding transcript exon variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 5 | 40414965 | upstream gene variant | C/T | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67187327 | intron variant | G/A | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 21 | 38919816 | intron variant | T/C | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67205233 | intron variant | G/A | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67264372 | downstream gene variant | A/G | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 1 | 67260421 | downstream gene variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 8 | 125527809 | intron variant | G/A | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 10 | 34998722 | regulatory region variant | T/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.240 | 5 | 40392626 | regulatory region variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2007 | 2008 | ||||||||
|
0.851 | 0.360 | 21 | 44195678 | intron variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 |
|
0.800 | 1.000 | 3 | 2006 | 2010 | |||||||
|
0.925 | 0.040 | 3 | 49664550 | synonymous variant | G/A | snv | 0.26 | 0.27 |
|
0.810 | 1.000 | 2 | 2007 | 2010 |