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 | 0.040 | 5 | 10169711 | downstream gene variant | T/C | snv | 0.34 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.160 | 10 | 102435445 | upstream gene variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 19 | 10830162 | missense variant | A/C | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 10 | 111079843 | 3 prime UTR variant | C/A | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
8 | 0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
7 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
2 | 1.000 | 0.120 | 12 | 114398675 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.080 | 1 | 115286135 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 11 | 118274971 | regulatory region variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
6 | 0.851 | 0.200 | 12 | 121155216 | intron variant | C/T | snv | 0.15 | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
5 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 |