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 | 1.000 | 0.040 | 16 | 7239569 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 17 | 45924905 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 16803898 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 65175479 | intron variant | C/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 49176204 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
7 | 0.882 | 0.120 | 6 | 15544505 | intron variant | A/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 13 | 46871568 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.925 | 0.120 | 17 | 45727828 | intron variant | T/C;G | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 174805993 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.160 | 11 | 27724217 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 18 | 55455800 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 7 | 159028856 | 3 prime UTR variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.882 | 0.040 | 5 | 63960164 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
8 | 0.827 | 0.200 | 14 | 54843774 | splice region variant | G/A | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 3 | 107482581 | intergenic variant | C/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 19 | 32338607 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 18 | 53371847 | intron variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 18 | 53431552 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.080 | 17 | 46006582 | intron variant | T/C;G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 50758466 | intron variant | C/G | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 5 | 38464142 | 3 prime UTR variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 14 | 74704980 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 37566403 | intron variant | T/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 |