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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 3 | 3088537 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.925 | 0.120 | 2 | 27617773 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.882 | 0.200 | 11 | 61829740 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 6 | 11021921 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.851 | 0.240 | 11 | 61828092 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.800 | 1.000 | 3 | 2011 | 2013 | ||||
|
16 | 0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
24 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
29 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 6 | 10953011 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 103397233 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 32337136 | intron variant | C/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 52780882 | non coding transcript exon variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 51293045 | regulatory region variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 |