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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
3 | 0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 22 | 43940430 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 22 | 43930820 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 16 | 56960280 | upstream gene variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 16 | 56968492 | intron variant | C/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43953356 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 22 | 43936063 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43932163 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 22 | 43934248 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 22 | 43937599 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 22 | 43989714 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 22 | 43998522 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 22 | 43939864 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 22 | 43933198 | intron variant | C/A;T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2013 | 2013 |