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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.160 | 6 | 130062912 | intron variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 17 | 48334138 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.851 | 0.200 | 3 | 46439310 | missense variant | A/C;G;T | snv | 0.39 | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.851 | 0.160 | 6 | 151842664 | start lost | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 0.020 | 0.500 | 2 | 2007 | 2010 | |||||
|
3 | 0.882 | 0.120 | 17 | 43094789 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.160 | 17 | 43063333 | splice region variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.120 | 13 | 32332593 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
14 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 13 | 104807897 | intergenic variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 16 | 23614019 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.320 | 11 | 108307985 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.030 | 0.667 | 3 | 2014 | 2016 | |||
|
13 | 0.752 | 0.240 | 1 | 241889740 | 3 prime UTR variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.160 | 15 | 90963407 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32380076 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 |