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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 13 | 28326373 | intron variant | C/T | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 13 | 28358693 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 5 | 150141675 | intron variant | G/A | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 10210563 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 16 | 86363229 | TF binding site variant | G/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 19 | 18693485 | intron variant | G/- | del | 9.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.160 | 9 | 21974682 | missense variant | A/C;G | snv | 6.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 4 | 54226459 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.080 | 16 | 86430089 | downstream gene variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 117400063 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 14 | 22843345 | synonymous variant | C/A;G | snv | 8.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.200 | 13 | 28319347 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
30 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 2 | 150927414 | intergenic variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 61285855 | intergenic variant | C/T | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 58270246 | intergenic variant | G/A | snv | 0.94 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 15 | 51325511 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 15 | 58069827 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 9 | 21978980 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.080 | 3 | 70879779 | intergenic variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 |