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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 6 | 43979661 | regulatory region variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 6 | 31271690 | stop gained | C/T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
10 | 0.776 | 0.360 | 6 | 43957870 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 0.667 | 3 | 2003 | 2008 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 7 | 73692949 | non coding transcript exon variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.776 | 0.200 | 7 | 73702147 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.080 | 1.000 | 8 | 1997 | 2011 | |||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.030 | 1.000 | 3 | 1997 | 2002 | ||||
|
14 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.030 | 1.000 | 3 | 1999 | 2000 | ||||
|
8 | 0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 27503724 | missense variant | C/T | snv | 1.3E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 |