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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.760 | 0.857 | 7 | 2006 | 2019 | |||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.830 | 1.000 | 5 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 173243134 | intergenic variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
7 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 173363490 | non coding transcript exon variant | A/C | snv | 0.79 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 67348757 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
6 | 0.807 | 0.280 | 1 | 173254724 | regulatory region variant | G/A | snv | 0.46 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
3 | 0.882 | 0.080 | 1 | 173287411 | intergenic variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 112708266 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 1 | 112701565 | missense variant | C/T | snv | 4.2E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
12 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.851 | 0.160 | 1 | 113891324 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
12 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
7 | 0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.040 | 1 | 198696788 | synonymous variant | C/G;T | snv | 8.8E-03; 8.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 67322032 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 35442850 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 1 | 173368608 | upstream gene variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |