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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.160 | 4 | 38798593 | missense variant | C/G | snv | 6.9E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.060 | 0.667 | 6 | 2004 | 2019 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.090 | 0.778 | 9 | 2004 | 2019 | ||||
|
2 | 0.925 | 0.040 | 19 | 51628480 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
14 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 19 | 6887725 | intron variant | G/A | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.320 | X | 12906578 | intron variant | C/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
23 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
22 | 0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.752 | 0.400 | 8 | 118952831 | upstream gene variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 19 | 39298475 | missense variant | A/G | snv | 0.13 | 0.25 | 0.020 | < 0.001 | 2 | 2015 | 2019 | |||
|
2 | 0.925 | 0.160 | 8 | 6964095 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 112917144 | missense variant | A/G | snv | 6.8E-02 | 1.0E-01 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.040 | 3 | 12881698 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.030 | 0.667 | 3 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.120 | 9 | 121017727 | synonymous variant | G/A | snv | 0.47 | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.040 | 7 | 24338421 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 12 | 3679094 | synonymous variant | G/A | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 |