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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 2 | 176172583 | 3 prime UTR variant | A/C;G;T | snv | 0.76 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.882 | 0.120 | 2 | 176178498 | non coding transcript exon variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 19 | 39242112 | upstream gene variant | G/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 113215368 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 139130268 | intron variant | -/GATTCAGAATCCA | delins | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 102180944 | intergenic variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 113258824 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 3 | 195884972 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 17 | 81131085 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 26096393 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 9 | 36665552 | missense variant | C/T | snv | 1.3E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 12 | 40314084 | missense variant | G/A;T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 7 | 141724247 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 3 | 27346152 | missense variant | G/A;C;T | snv | 3.4E-04; 6.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 3 | 43348090 | missense variant | G/A | snv | 5.9E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 12 | 131910720 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 11 | 67435048 | missense variant | C/A;T | snv | 4.1E-06; 6.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 178776873 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 3 | 134202791 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 27440906 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 4 | 75607279 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 219483170 | missense variant | C/T | snv | 8.9E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 7 | 91118066 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 |