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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.200 | 19 | 10338716 | synonymous variant | A/G | snv | 0.81 | 0.85 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
17 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 1 | 207766701 | intron variant | G/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.120 | 1 | 3730979 | missense variant | G/A | snv | 1.2E-05; 8.2E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
8 | 0.851 | 0.320 | 17 | 7675146 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.776 | 0.320 | 22 | 41925447 | missense variant | G/A | snv | 5.7E-03 | 5.7E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.160 | 1 | 206779403 | intron variant | T/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.120 | 14 | 52274253 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.120 | 12 | 6601978 | missense variant | A/C;G | snv | 2.0E-05; 1.2E-04; 5.2E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 |