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 | ||||
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 2 | 24927427 | intergenic variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 2 | 646364 | intergenic variant | T/A | snv | 0.82 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | ||||
|
2 | 1.000 | 0.080 | 1 | 74512186 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | |||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.120 | 2 | 25161018 | 3 prime UTR variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.100 | 0.786 | 14 | 2000 | 2017 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.100 | 0.882 | 17 | 1997 | 2018 | ||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 | 0.020 | 1.000 | 2 | 2011 | 2016 | |||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.040 | 1.000 | 4 | 2008 | 2019 | ||||
|
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 | ||||
|
1 | 1.000 | 0.080 | 12 | 442384 | 3 prime UTR variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 7 | 44146587 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 |