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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 14 | 102229508 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 12 | 65781114 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 1 | 58637536 | intergenic variant | C/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.240 | 19 | 7166365 | synonymous variant | C/G;T | snv | 4.0E-06; 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.200 | 12 | 12138545 | intron variant | G/A;C | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
8 | 0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 134779071 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.790 | 0.320 | 16 | 82617112 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 63498094 | 3 prime UTR variant | CT/-;CTCT | delins | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 22 | 31251108 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.200 | 11 | 68402220 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
8 | 0.827 | 0.200 | 9 | 117713548 | stop gained | G/A;T | snv | 3.1E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.160 | 2 | 227256385 | missense variant | G/A;T | snv | 4.0E-06; 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 16 | 53772541 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 22 | 31504373 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |