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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 16 | 19912366 | regulatory region variant | -/C | delins | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 18 | 60381959 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 7 | 2732797 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 1.000 | 0.080 | 18 | 60185715 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 3 | 185572316 | regulatory region variant | A/G | snv | 4.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 31303952 | 3 prime UTR variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 16 | 30999862 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 16 | 15035602 | intron variant | A/G | snv | 0.40 | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 8 | 25626046 | intron variant | A/G | snv | 4.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 635864 | intergenic variant | A/G | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 36336957 | intron variant | A/G | snv | 4.4E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 6 | 26200449 | 3 prime UTR variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 3 | 85777231 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 219470307 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 28200650 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 4 | 144903999 | intron variant | A/G;T | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 135334491 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 16 | 28319469 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 16 | 31014320 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 2 | 6015425 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 18 | 23506161 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |