| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.040 | 6 | 73425293 | synonymous variant | C/T | snv | 0.71 | 0.72 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.120 | 12 | 55958494 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 20 | 3863021 | intron variant | C/A | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 125024464 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.120 | 17 | 78134494 | missense variant | A/C;T | snv | 4.0E-06; 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.120 | X | 108090354 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.120 | X | 108094263 | intron variant | G/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 0.010 | 1.000 | 1 | 2008 | 2008 |