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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 18 | 52992904 | intron variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.710 | 1.000 | 2 | 2015 | 2015 | |||
|
15 | 0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 178607095 | missense variant | C/T | snv | 7.0E-04 | 1.6E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 95104516 | missense variant | G/A | snv | 1.7E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 178779033 | missense variant | C/T | snv | 1.3E-04 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 178633512 | missense variant | G/A | snv | 7.3E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 219489128 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 98950120 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 37761806 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 5 | 177430911 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 178542408 | missense variant | C/T | snv | 5.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 74682735 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 117393231 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 64054300 | missense variant | G/A;T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 135201571 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 91964700 | missense variant | C/T | snv | 8.3E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 41243665 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 |