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 | 113772871 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1 | 113823812 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 1 | 113814041 | 3 prime UTR variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 2 | 60922344 | missense variant | T/C | snv | 1.5E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.070 | 1.000 | 7 | 2013 | 2018 | |||
|
5 | 0.851 | 0.120 | 3 | 9750336 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 4 | 77586643 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 88144923 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
1 | 6 | 159692840 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 1.000 | 3 | 2012 | 2015 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 |