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 | 1.000 | 0.040 | 2 | 102328956 | intron variant | A/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.280 | 2 | 102437989 | intron variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 11358685 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 9 | 114730737 | intergenic variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 9 | 114776054 | upstream gene variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 114802595 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 115381654 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 117614040 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 8 | 11891733 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 12272347 | intergenic variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 4 | 123863618 | non coding transcript exon variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.120 | 11 | 1280752 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 134880265 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.320 | 9 | 134887245 | missense variant | G/C;T | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 6 | 146576497 | intergenic variant | A/T | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 6 | 146597814 | intron variant | G/A | snv | 7.7E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 6 | 159164909 | upstream gene variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 |