| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 50875994 | intron variant | A/G | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 30783657 | downstream gene variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.827 | 0.200 | 1 | 156130818 | intron variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.790 | 0.120 | 11 | 47333552 | splice region variant | C/T | snv | 1.7E-05 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 2 | 47161833 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 237791441 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 1 | 156135968 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
16 | 0.742 | 0.280 | 3 | 38603929 | missense variant | T/C | snv | 0.22 | 0.25 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1 | 237708879 | missense variant | A/G | snv | 3.9E-04 | 2.9E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
15 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.120 | 1 | 237377386 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |