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 | 8 | 91890204 | intron variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 2 | 100987350 | non coding transcript exon variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
6 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 13 | 42101357 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 6 | 31116450 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 17 | 44383518 | synonymous variant | G/A;T | snv | 6.5E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
6 | 0.925 | 0.080 | 11 | 27728178 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 12 | 121185082 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 7 | 155082904 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 17 | 45816520 | missense variant | C/A;T | snv | 4.0E-06; 6.4E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
1 | 4 | 6300980 | stop gained | C/G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2005 | 2005 |