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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 6 | 30364778 | upstream gene variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 7 | 94402493 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.200 | 6 | 32867481 | regulatory region variant | T/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | 6 | 31642909 | missense variant | A/G | snv | 0.51 | 0.44 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 6 | 32152938 | non coding transcript exon variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.240 | 6 | 31472305 | non coding transcript exon variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 6 | 31353908 | 3 prime UTR variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 6 | 31719231 | synonymous variant | G/A | snv | 0.27 | 0.31 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 11 | 2174751 | upstream gene variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 11 | 2172610 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.200 | 6 | 31642752 | non coding transcript exon variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 6 | 32754409 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 12 | 9703362 | upstream gene variant | T/G | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.160 | 6 | 32812947 | 3 prime UTR variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.240 | 6 | 32096949 | missense variant | T/C;G | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | 6 | 32082981 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.200 | 6 | 32718307 | non coding transcript exon variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.240 | 6 | 32059031 | intron variant | G/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.160 | 16 | 11096031 | intron variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.160 | 6 | 30828768 | intron variant | T/C | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 |