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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 1 | 209693771 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 180777104 | intergenic variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.851 | 0.240 | 7 | 141972804 | missense variant | T/C | snv | 0.49 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 18 | 77089350 | intron variant | C/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 9827538 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 6 | 36755065 | non coding transcript exon variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 212620271 | 3 prime UTR variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 7 | 44146587 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
1 | 1.000 | 0.080 | 16 | 6114477 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 8 | 70348097 | intron variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 15 | 84657289 | missense variant | G/C;T | snv | 4.5E-06; 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 16 | 53529332 | intergenic variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.240 | 8 | 81478525 | 3 prime UTR variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 120394556 | 3 prime UTR variant | T/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.200 | 4 | 141733279 | 3 prime UTR variant | A/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 17 | 43953163 | missense variant | G/C | snv | 0.63 | 0.59 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 10 | 6234611 | 3 prime UTR variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 |