| 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 | 0.120 | 1 | 156737983 | intron variant | T/C;G | snv | 0.99 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.280 | 6 | 32459971 | non coding transcript exon variant | C/T | snv | 0.54 | 0.51 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.200 | 6 | 32221255 | synonymous variant | T/C | snv | 0.31 | 0.29 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 1 | 26199948 | missense variant | A/G | snv | 0.15 | 0.17 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 16 | 72012312 | intron variant | G/A;T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 22 | 31289270 | missense variant | C/G | snv | 5.6E-02 | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 14 | 22533736 | upstream gene variant | G/A;T | snv |
|
0.810 | 1.000 | 3 | 2009 | 2015 | |||||||||
|
1.000 | 0.080 | 4 | 168685769 | intron variant | T/C | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 4 | 153570903 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 4 | 44958427 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 5 | 34604531 | regulatory region variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 5 | 167802999 | intron variant | T/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 3 | 165771478 | intron variant | C/T | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 8 | 33215980 | regulatory region variant | A/G | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 8 | 113022302 | intron variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 11 | 33684620 | intron variant | A/G | snv | 4.2E-03 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 14 | 76678871 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 11 | 6644463 | intron variant | A/C | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 2 | 223088118 | intron variant | T/C | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 4068008 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 7 | 142491501 | upstream gene variant | A/T | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 19 | 17569292 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.200 | 6 | 32827255 | 3 prime UTR variant | G/A | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 127056727 | intron variant | T/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |