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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 1 | 228003664 | upstream gene variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.882 | 0.160 | 10 | 70760503 | missense variant | C/T | snv | 8.6E-02 | 7.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.080 | 4 | 73076961 | synonymous variant | C/T | snv | 0.17 | 0.13 | 0.700 | 0 | ||||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.742 | 0.240 | 5 | 82253397 | missense variant | C/T | snv | 0.52 | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.790 | 0.240 | 14 | 96311131 | missense variant | G/C | snv | 0.36 | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 18 | 63319316 | 5 prime UTR variant | C/G | snv | 0.98 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 14 | 23309489 | 3 prime UTR variant | A/G | snv | 0.93 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.240 | 22 | 17743998 | missense variant | T/C | snv | 2.4E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
6 | 0.851 | 0.160 | 9 | 35679254 | missense variant | A/G;T | snv | 8.2E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.120 | 9 | 35674056 | missense variant | G/A | snv | 0.37 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.120 | 11 | 105024783 | upstream gene variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.160 | 10 | 113729393 | missense variant | C/G | snv | 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 |