| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
3 | 133566686 | intergenic variant | G/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | 3 | 133775510 | missense variant | C/T | snv | 0.16 | 0.14 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 12 | 110895818 | intron variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
3 | 133543963 | upstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133623144 | missense variant | T/C;G | snv | 0.29; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133720340 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133805873 | missense variant | G/C | snv | 0.22 | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1 | 63659401 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 63648758 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133832798 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133722323 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1 | 63654942 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
3 | 133805129 | non coding transcript exon variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133827453 | 3 prime UTR variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133722750 | intron variant | A/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133765344 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133569662 | upstream gene variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133817811 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1 | 63679612 | intergenic variant | C/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133771189 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 3 | 133765868 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
3 | 133818073 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133818223 | intron variant | A/G | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |