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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 5 | 56001471 | intron variant | C/A | snv | 0.93 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 19 | 11120434 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.925 | 0.040 | 19 | 11110693 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 19 | 11107508 | stop gained | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.080 | 19 | 11107511 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 3 | 125594988 | 5 prime UTR variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 10 | 113089594 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 10 | 92502602 | intron variant | T/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 19 | 6678742 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | X | 109719433 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 20 | 10405365 | missense variant | C/A | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 20 | 10405411 | missense variant | G/A | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 17 | 43952807 | 3 prime UTR variant | G/C;T | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.732 | 0.480 | 9 | 121006922 | missense variant | C/T | snv | 0.47 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 17 | 69951455 | intergenic variant | T/A;C | snv | 0.71 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 2 | 226797205 | missense variant | C/G | snv | 1.4E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.763 | 0.200 | 18 | 49567494 | missense variant | C/A;T | snv | 4.0E-06; 0.27; 4.0E-06 | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 1 | 157135581 | missense variant | C/G | snv | 4.8E-05 | 4.2E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 17 | 43953963 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.160 | 19 | 6718523 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 20 | 10404855 | 3 prime UTR variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |