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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | |||||||
|
14 | 0.882 | 0.120 | 8 | 22162694 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 0.040 | 1.000 | 4 | 2004 | 2019 | ||||
|
4 | 0.882 | 0.040 | 8 | 22162727 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
9 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.120 | 10 | 79613818 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.080 | 8 | 22162688 | missense variant | G/A | snv | 1.5E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 8 | 22163196 | stop gained | C/A | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
22 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2013 | 2019 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.040 | 11 | 1100037 | intron variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 15 | 40421575 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 15 | 40359637 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 11 | 1325572 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 6 | 7558085 | intron variant | T/C | snv | 0.20 | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 1062990 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1061718 | intergenic variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1061781 | intergenic variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1062867 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1067011 | intergenic variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 |