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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 7 | 150996468 | missense variant | G/A;C | snv | 3.9E-03; 8.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 0.882 | 0.080 | 6 | 31575318 | upstream gene variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.040 | 8 | 97154685 | intergenic variant | T/C | snv | 0.75 | 0.860 | 1.000 | 6 | 2010 | 2018 | ||||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.030 | 0.333 | 3 | 2010 | 2014 | |||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 11 | 101128477 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 11 | 101127985 | synonymous variant | C/G;T | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 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 | |||
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 17 | 30184960 | synonymous variant | G/A | snv | 0.52 | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
9 | 0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 7 | 73718911 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 13 | 41761944 | intron variant | G/A | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 13 | 41854763 | intron variant | G/A | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.870 | 1.000 | 10 | 2011 | 2019 | ||||
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.850 | 1.000 | 9 | 2011 | 2019 | ||||
|
5 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 0.880 | 1.000 | 9 | 2011 | 2020 |