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 | 0.040 | 19 | 44907777 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.040 | 7 | 99664039 | missense variant | T/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 8 | 19939444 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.040 | 22 | 50627185 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.040 | 6 | 31354782 | non coding transcript exon variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 58560880 | missense variant | C/A;T | snv | 0.97 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 1.000 | 0.040 | 1 | 153947810 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 8806360 | missense variant | T/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.040 | 5 | 177091064 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 11 | 116836210 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 3 | 123885940 | upstream gene variant | T/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.080 | 9 | 21998036 | intron variant | G/A | snv | 0.85 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.925 | 0.080 | 2 | 21028042 | missense variant | G/A | snv | 0.49 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.851 | 0.120 | 19 | 44909080 | missense variant | G/A | snv | 2.0E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 11 | 114298316 | non coding transcript exon variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
6 | 0.827 | 0.120 | 11 | 14789216 | synonymous variant | A/G | snv | 0.63 | 0.64 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
7 | 0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 15 | 58541794 | missense variant | G/A;T | snv | 7.1E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.120 | 1 | 11850620 | upstream gene variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.120 | 19 | 44908783 | missense variant | C/T | snv | 1.4E-03 | 6.9E-03 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
5 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.827 | 0.160 | 10 | 102900499 | non coding transcript exon variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 |