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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.280 | 6 | 33071848 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
4 | 0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 125241510 | upstream gene variant | CC/-;C;CCC;CCCC | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 125235313 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 125235024 | 3 prime UTR variant | G/A;T | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | 9 | 125241700 | non coding transcript exon variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.120 | 7 | 30677027 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.880 | 0.909 | 11 | 2011 | 2017 | |||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.860 | 1.000 | 8 | 2011 | 2017 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.080 | 0.750 | 8 | 2011 | 2017 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.730 | 0.750 | 4 | 2011 | 2019 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.730 | 1.000 | 4 | 2011 | 2019 | |||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.030 | 0.667 | 3 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 33073257 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
10 | 0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
4 | 0.882 | 0.240 | 6 | 32701990 | downstream gene variant | T/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.710 | 1.000 | 2 | 2011 | 2019 | |||
|
3 | 0.882 | 0.280 | 6 | 32738557 | upstream gene variant | A/G | snv | 0.80 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.200 | 6 | 32739518 | upstream gene variant | G/T | snv | 0.51 | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||
|
7 | 0.790 | 0.520 | 6 | 33087761 | 3 prime UTR variant | C/T | snv | 0.38 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33068100 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 |