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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 2 | 178527151 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 19 | 41323676 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 22 | 19950010 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.200 | 2 | 178549459 | missense variant | G/A | snv | 4.1E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 14 | 76404257 | intron variant | A/G | snv | 0.89 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.120 | 6 | 131832757 | intron variant | T/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 17 | 81406747 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 13 | 31510764 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
10 | 0.827 | 0.240 | 22 | 19962429 | 5 prime UTR variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 7 | 21359709 | intergenic variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 32265375 | intron variant | G/C | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 14 | 76525821 | intron variant | C/T | snv | 0.79 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||||
|
5 | 0.851 | 0.280 | 6 | 152061176 | intron variant | G/T | snv | 0.17 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 137968843 | intergenic variant | G/C | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
5 | 0.882 | 0.120 | 22 | 19968169 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 |