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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.200 | 20 | 10652533 | missense variant | C/T | snv | 0.830 | 1.000 | 4 | 2001 | 2010 | |||||
|
2 | 0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2003 | ||||
|
1 | 1.000 | 0.080 | 7 | 100819874 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
5 | 0.925 | 0.120 | 12 | 112468611 | intron variant | A/G | snv | 0.70 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 136523014 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 10 | 33178180 | 3 prime UTR variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 63042945 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 5 | 90777460 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 105802610 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 8 | 11730972 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 19 | 18896591 | 5 prime UTR variant | A/C | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 8919651 | intergenic variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 112602139 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 112593670 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 8912261 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 21031282 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 22200684 | missense variant | G/C;T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 |