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 | 20 | 23046984 | 3 prime UTR variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
14 | 0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 17 | 63490971 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 11 | 46739325 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 2 | 127428921 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 8800409 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.120 | 3 | 93877074 | missense variant | T/C | snv | 8.0E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.160 | 2 | 127426114 | missense variant | C/T | snv | 7.5E-04 | 3.2E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
4 | 0.925 | 0.080 | 20 | 23049378 | missense variant | C/T | snv | 2.0E-03 | 2.5E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 |