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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | X | 101397982 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 1995 | 2007 | |||||
|
3 | 0.882 | 0.160 | X | 101398403 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 0.700 | 1.000 | 11 | 1993 | 2017 | ||||
|
3 | 0.925 | 0.160 | X | 101399747 | 3 prime UTR variant | C/T | snv | 0.700 | 1.000 | 13 | 2002 | 2017 | |||||
|
8 | 0.807 | 0.160 | X | 101401752 | missense variant | C/G;T | snv | 5.5E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | X | 101407834 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 12 | 101648107 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 12 | 104318981 | stop gained | C/G;T | snv | 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 12 | 104321227 | missense variant | A/G | snv | 4.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 2 | 105363414 | missense variant | C/A;T | snv | 1.1E-04; 2.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 105363443 | missense variant | C/T | snv | 3.5E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 2 | 105363461 | missense variant | G/A | snv | 6.3E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.120 | 17 | 10692805 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.120 | 17 | 10692932 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.020 | 0.500 | 2 | 2009 | 2013 | |||
|
2 | 1.000 | 0.040 | 11 | 1074959 | non coding transcript exon variant | G/C;T | snv | 1.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 1075743 | non coding transcript exon variant | G/A;T | snv | 8.2E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 12 | 10882431 | missense variant | G/C | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 110911090 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 12 | 110911093 | missense variant | C/T | snv | 0.710 | 1.000 | 4 | 2008 | 2018 | |||||
|
1 | 1.000 | 0.040 | 12 | 110911094 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2008 | 2013 | |||||
|
1 | 1.000 | 0.040 | 12 | 110911096 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 110914200 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 12 | 110914221 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 110914267 | missense variant | C/T | snv | 0.700 | 0 |