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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
18 | 0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 2 | 227008112 | missense variant | G/A | snv | 1.6E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 2 | 227283830 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 19 | 40738982 | intron variant | G/A | snv | 0.76 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 1.000 | 0.160 | 13 | 110192222 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 1 | 230710933 | intron variant | T/C | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1 | 230709809 | intron variant | G/A | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 1 | 230704350 | intron variant | T/A;C;G | snv | 1.2E-05; 0.11; 2.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.200 | 2 | 173598126 | intergenic variant | T/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | X | 37777261 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.160 | 5 | 60440946 | intron variant | A/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 11 | 34470133 | intron variant | G/A | snv | 1.0E-01 | 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 | 0.060 | 0.667 | 6 | 1999 | 2012 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2007 | 2012 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2007 | 2012 |