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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.320 | 18 | 55228877 | missense variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
3 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.240 | 18 | 2674018 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 2 | 176093070 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | X | 67546090 | missense variant | G/T | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.807 | 0.160 | 12 | 49091165 | stop gained | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.320 | 4 | 122619586 | intron variant | C/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.240 | 15 | 74746626 | upstream gene variant | G/A | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 15 | 80402288 | intron variant | C/T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 3 | 119808929 | intron variant | T/C | snv | 0.90 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.200 | 16 | 342461 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.763 | 0.320 | 12 | 122170805 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 152055389 | intron variant | G/A | snv | 0.22 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.320 | 12 | 122172836 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 |