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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.120 | 10 | 43120120 | missense variant | GC/TT | mnv | 0.720 | 1.000 | 4 | 2004 | 2017 | |||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.730 | 1.000 | 4 | 1997 | 2015 | ||||
|
10 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 0.040 | 1.000 | 4 | 1995 | 2015 | |||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.730 | 1.000 | 4 | 1998 | 2015 | |||||
|
4 | 0.851 | 0.120 | 10 | 43120119 | missense variant | AGC/TTT | mnv | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||
|
7 | 0.807 | 0.120 | 10 | 43114598 | missense variant | G/C;T | snv | 2.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
10 | 0.790 | 0.280 | 10 | 43113628 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2003 | 2015 | |||||
|
8 | 0.807 | 0.280 | 10 | 43113628 | missense variant | GC/AT;CT;TT | mnv | 0.020 | 1.000 | 2 | 2003 | 2015 | |||||
|
9 | 0.776 | 0.120 | 10 | 43114491 | missense variant | G/A;T | snv | 4.0E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 1997 | 2015 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.710 | 1.000 | 2 | 1997 | 2006 | ||||
|
6 | 0.827 | 0.120 | 10 | 43114492 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 10 | 43120164 | inframe deletion | TGTTTATGAAGA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 10 | 43114494 | inframe deletion | GAGCTG/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 10 | 43113626 | inframe deletion | TTCCCTGAGGAGGAGAAGTGCTTCTGC/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.120 | 10 | 43114596 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 43100551 | missense variant | C/A;T | snv | 2.7E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 10 | 43120129 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.240 | 10 | 43114546 | missense variant | C/T | snv | 3.2E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.160 | 10 | 43120185 | synonymous variant | C/A;G | snv | 1.6E-05; 0.21 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 10 | 43126769 | 3 prime UTR variant | T/C | snv | 0.79 | 0.84 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.160 | 10 | 43127485 | 3 prime UTR variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 10 | 43130238 | 3 prime UTR variant | T/C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 10 | 43106382 | missense variant | G/A | snv | 6.3E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 |