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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 10 | 43100496 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43102444 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43105186 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43123732 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43126678 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43114478 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43102608 | missense variant | G/A;C | snv | 4.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 10 | 43100480 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43119575 | missense variant | C/T | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 10 | 43113623 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 1994 | 1998 | |||||
|
8 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 0.900 | 0.923 | 13 | 2011 | 2019 | ||||
|
10 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 0.760 | 1.000 | 33 | 1994 | 2017 | |||||
|
3 | 0.882 | 0.160 | 10 | 43086825 | intron variant | A/C;T | snv | 0.050 | 1.000 | 5 | 2011 | 2015 | |||||
|
4 | 0.851 | 0.160 | 10 | 43100520 | synonymous variant | A/C;G | snv | 0.73 | 0.040 | 1.000 | 4 | 1999 | 2014 | ||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 1996 | 1998 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.730 | 1.000 | 3 | 1998 | 2009 | |||||
|
3 | 0.882 | 0.160 | 10 | 43118395 | synonymous variant | G/A;T | snv | 0.74 | 0.020 | 1.000 | 2 | 1999 | 2014 | ||||
|
4 | 0.851 | 0.160 | 10 | 43120185 | synonymous variant | C/A;G | snv | 1.6E-05; 0.21 | 0.020 | 1.000 | 2 | 1999 | 2010 | ||||
|
2 | 0.925 | 0.080 | 10 | 43109070 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 0.020 | 1.000 | 2 | 2010 | 2016 | |||
|
2 | 0.925 | 0.160 | 10 | 43127485 | 3 prime UTR variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2009 | 2014 | |||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2009 | ||||
|
4 | 0.851 | 0.200 | 10 | 43102345 | missense variant | G/A | snv | 7.9E-04 | 2.9E-04 | 0.020 | 1.000 | 2 | 2010 | 2016 | |||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.720 | 1.000 | 2 | 2009 | 2013 | ||||
|
4 | 0.851 | 0.160 | 10 | 43106550 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
3 | 0.882 | 0.240 | 10 | 43114546 | missense variant | C/T | snv | 3.2E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 |