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 | 1.000 | 2 | 81628601 | intergenic variant | A/C | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
27 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
29 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 5 | 158418394 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.040 | 1 | 11844019 | 3 prime UTR variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 7 | 50561043 | 5 prime UTR variant | TCTC/-;TC | delins | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.882 | 0.160 | 18 | 58149559 | splice region variant | G/A | snv | 0.28 | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
13 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
9 | 0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 7 | 50555587 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 |