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 | 0.160 | 4 | 9993558 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.200 | 7 | 99770202 | missense variant | T/A;C | snv | 4.1E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 3 | 99758338 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.200 | 14 | 99691630 | non coding transcript exon variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 99379424 | intron variant | G/A | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 5 | 99159794 | intergenic variant | T/C | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
27 | 0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.080 | 15 | 98891613 | missense variant | G/A | snv | 5.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 17 | 9877070 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 98677991 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 9 | 98056910 | missense variant | C/G;T | snv | 4.2E-06; 0.27 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 14 | 97688175 | intron variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 97655376 | downstream gene variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.050 | 1.000 | 5 | 2009 | 2014 | |||
|
14 | 0.732 | 0.280 | 3 | 9756456 | intron variant | C/G | snv | 0.28 | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 3 | 9750269 | 5 prime UTR variant | G/T | snv | 4.4E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 3 | 9750264 | 5 prime UTR variant | A/G | snv | 1.2E-03 | 4.5E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 3 | 9750234 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 1 | 9724850 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.080 | 5 | 96429259 | missense variant | C/A;T | snv | 4.0E-06; 2.1E-03 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
2 | 0.925 | 0.120 | 5 | 96426773 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.851 | 0.160 | 5 | 96393270 | missense variant | G/C | snv | 0.27 | 0.24 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
6 | 0.827 | 0.160 | 14 | 96262416 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 15 | 95945146 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 7 | 95586935 | non coding transcript exon variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 |