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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 25161630 | missense variant | G/C | snv | 8.6E-05 | 4.7E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 13 | 32315655 | 5 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 12 | 12922268 | downstream gene variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 11 | 69152181 | intron variant | A/G | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 63942595 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 5 | 149816671 | intron variant | G/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 31972346 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 1 | 226415934 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 10 | 103909085 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 19 | 3353624 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.080 | 16 | 68762843 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 13 | 32407005 | non coding transcript exon variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 21 | 41373487 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 10 | 5742188 | missense variant | A/C;G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 2 | 38090568 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 7 | 124756591 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 7 | 131070053 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.851 | 0.080 | 15 | 28090674 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 2 | 239154306 | intron variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 20 | 34648892 | intron variant | G/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 224742 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 89718699 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 2 | 38049406 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 6 | 21163688 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 9 | 107936435 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |