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 | 12 | 25227308 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
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 | |||||
|
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 | ||||
|
1 | 1.000 | 0.080 | 10 | 43130238 | 3 prime UTR variant | T/C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 17027802 | missense variant | A/G | snv | 1.2E-02 | 9.3E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 10 | 43112853 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 108252912 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 161328467 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 161362382 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 10 | 43106436 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 43114515 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 16 | 68823545 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 18 | 75288186 | missense variant | G/A;C | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | |||||
|
2 | 0.925 | 0.080 | 10 | 43113603 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 10 | 43118397 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 10 | 43118418 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | 10 | 43119694 | missense variant | C/G | snv | 1.8E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 18 | 75288051 | missense variant | G/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 9 | 95459774 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.080 | 1 | 161340637 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
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 |