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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 10 | 79256139 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 10 | 79248726 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 23470822 | intron variant | A/- | del | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 21 | 42431719 | intron variant | T/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 21 | 42428412 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.851 | 0.160 | 11 | 89277878 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
29 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 11 | 89272085 | intron variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 6 | 32377506 | intron variant | C/A;T | snv | 4.2E-02 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 30103983 | non coding transcript exon variant | T/C | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30211411 | intron variant | G/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30167325 | intron variant | C/T | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.827 | 0.240 | 6 | 32059031 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.807 | 0.240 | 6 | 32098988 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.925 | 0.040 | 6 | 32046679 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 18 | 62361422 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |