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 | 0.925 | 0.080 | 7 | 44153396 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2000 | 2014 | |||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
2 | 0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
2 | 0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.040 | 20 | 44428455 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.360 | 10 | 67906841 | synonymous variant | T/C | snv | 0.11 | 7.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 239907303 | intron variant | T/C | snv | 0.23 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
21 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
13 | 0.790 | 0.200 | 4 | 55460540 | intron variant | G/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 12 | 2000 | 2012 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 1.000 | 12 | 1991 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 | 0.700 | 1.000 | 5 | 2003 | 2012 |