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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
3 | 0.925 | 0.120 | 4 | 102501347 | 5 prime UTR variant | C/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
17 | 0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.200 | 14 | 103698934 | missense variant | C/A;T | snv | 4.5E-06; 4.3E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 1.000 | 4 | 2008 | 2019 | |||
|
3 | 0.925 | 0.120 | 11 | 105024783 | upstream gene variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 6 | 105082089 | 3 prime UTR variant | T/A | snv | 0.82 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
5 | 0.851 | 0.160 | 11 | 111910113 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 11 | 111911560 | synonymous variant | C/G;T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.200 | 11 | 111911973 | 5 prime UTR variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 10 | 113099704 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
9 | 0.807 | 0.160 | 10 | 113729393 | missense variant | C/G | snv | 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
17 | 0.732 | 0.280 | 7 | 116539780 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.716 | 0.320 | 7 | 116554174 | intron variant | T/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2011 | 2017 | |||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2002 | 2017 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.925 | 0.120 | 8 | 11845033 | 3 prime UTR variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.925 | 0.120 | 8 | 11849072 | synonymous variant | T/C;G | snv | 3.5E-02; 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 3 | 119993874 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 |