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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.807 | 0.360 | 7 | 99784473 | upstream gene variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 13 | 99434005 | upstream gene variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 13 | 99351854 | intron variant | G/A;T | snv | 0.17; 7.9E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 99162881 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 98226195 | intron variant | G/A | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 14 | 98032614 | intergenic variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | X | 97839482 | intergenic variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2011 | 2019 | |||||
|
2 | 0.925 | 0.160 | 12 | 9757568 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 97571204 | intron variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 12 | 9753094 | 3 prime UTR variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 9723495 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 12 | 9602982 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.752 | 0.240 | 11 | 95578258 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2007 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 93002505 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | 13 | 92711507 | intron variant | G/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 92711321 | intron variant | T/A | snv | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 92682820 | intron variant | C/T | snv | 0.20 | 0.810 | 1.000 | 2 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.120 | 13 | 92679633 | intron variant | G/A | snv | 0.39 | 0.820 | 1.000 | 3 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 92655550 | intron variant | G/C | snv | 0.57 | 0.710 | 1.000 | 2 | 2011 | 2017 |