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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.030 | 0.667 | 3 | 2013 | 2018 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.200 | 7 | 75166663 | non coding transcript exon variant | T/A;C | snv | 1.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.200 | 9 | 114361709 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.200 | 7 | 74779296 | missense variant | G/A | snv | 1.1E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
25 | 0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.240 | 4 | 101794731 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.200 | 3 | 160001345 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.320 | 8 | 11482672 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 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 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 1.000 | 0.200 | 6 | 31592893 | 5 prime UTR variant | C/T | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.200 | 3 | 48467567 | synonymous variant | G/A | snv | 9.4E-03 | 4.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.280 | 7 | 128948946 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
8 | 0.807 | 0.320 | 13 | 108285104 | intron variant | T/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.280 | 5 | 151076171 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 |