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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1 | 170403362 | intergenic variant | A/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 75529546 | intergenic variant | A/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 88823948 | intron variant | A/C | snv | 7.9E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 19 | 33829949 | intergenic variant | A/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 3 | 141402972 | 5 prime UTR variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.040 | 11 | 75565133 | intron variant | A/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 2 | 232320342 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 74035775 | missense variant | A/C;G | snv | 0.52 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 5 | 61193420 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 6 | 40380914 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 20 | 46930192 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 10 | 79147390 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 5 | 124994829 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 12 | 53948900 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 219479453 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1 | 72478934 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 94133757 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 1.000 | 0.040 | 6 | 26233159 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 2 | 25260101 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 78212446 | intergenic variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 3 | 52615732 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 |