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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.900 | 0.953 | 190 | 2006 | 2020 | |||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.900 | 0.908 | 65 | 2006 | 2020 | |||||
|
6 | 0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 | 0.900 | 1.000 | 23 | 2006 | 2020 | ||||
|
22 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 0.870 | 0.900 | 10 | 2006 | 2020 | |||||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.800 | 0.917 | 12 | 2006 | 2020 | |||||
|
3 | 1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 | 0.720 | 1.000 | 4 | 2007 | 2015 | ||||
|
3 | 1.000 | 0.080 | 10 | 112994312 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 4 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 112978018 | intron variant | C/T | snv | 5.8E-03 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 0.080 | 10 | 113120583 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
9 | 0.763 | 0.240 | 10 | 113014168 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 113022528 | intron variant | T/G | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 10 | 112988102 | intron variant | GT/-;GTGT;GTGTGT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 10 | 113036289 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.160 | 10 | 113034064 | intron variant | T/A;C | snv | 0.54 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 0.100 | 0.667 | 15 | 2007 | 2015 | ||||
|
2 | 0.925 | 0.160 | 10 | 113080735 | intron variant | G/A | snv | 0.25 | 0.100 | 0.700 | 10 | 2007 | 2015 | ||||
|
4 | 0.851 | 0.160 | 10 | 113041766 | intron variant | G/A | snv | 0.53 | 0.040 | 0.500 | 4 | 2007 | 2013 | ||||
|
2 | 0.925 | 0.120 | 10 | 113017965 | intron variant | A/G | snv | 0.55 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
2 | 1.000 | 0.080 | 10 | 113138334 | intron variant | T/C | snv | 0.71 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
|
1 | 1.000 | 0.080 | 10 | 113156827 | intron variant | G/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 10 | 112976855 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 10 | 113106413 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 10 | 113127963 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 112951246 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.160 | 10 | 113029056 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 |