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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 0.800 | 0.955 | 22 | 2007 | 2019 | ||||
|
3 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 0.780 | 1.000 | 10 | 2008 | 2017 | ||||
|
3 | 0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.160 | 8 | 127308101 | intron variant | A/G | snv | 0.15 | 0.720 | 1.000 | 3 | 2009 | 2017 | ||||
|
3 | 0.925 | 0.080 | 8 | 127323428 | intron variant | G/A | snv | 0.36 | 0.030 | 0.667 | 3 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 126999692 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.080 | 8 | 127119564 | intron variant | G/A | snv | 1.0E-02 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
3 | 0.882 | 0.160 | 8 | 127310936 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 8 | 127405259 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 8 | 127112950 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 127038268 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 8 | 127094539 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 8 | 127110414 | intron variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 8 | 127196124 | intron variant | A/G | snv | 4.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 8 | 127115007 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 8 | 127104255 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 8 | 127063445 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 8 | 126869707 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 127328663 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 127068178 | intron variant | G/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | 8 | 127012566 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 127101181 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 |