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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 12 | 56007301 | upstream gene variant | G/A | snv | 0.50 | 0.810 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 10 | 71376162 | intron variant | G/A;C | snv | 0.810 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 6 | 32377506 | intron variant | C/A;T | snv | 4.2E-02 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 35259305 | 3 prime UTR variant | A/G | snv | 0.33 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.851 | 0.120 | 15 | 28111713 | 3 prime UTR variant | C/T | snv | 0.49 | 0.50 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 10 | 79256139 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 4 | 10725229 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 166946901 | intron variant | T/C | snv | 0.53 | 0.50 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.827 | 0.320 | 6 | 90247744 | intron variant | C/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 113721259 | intron variant | C/T | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 29974306 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
12 | 0.752 | 0.240 | 11 | 95578258 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.851 | 0.200 | 12 | 111466567 | intron variant | T/A | snv | 0.66 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 22 | 41361643 | downstream gene variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 19 | 4830616 | intron variant | T/C | snv | 0.66 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 132917672 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 188369840 | intron variant | C/T | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 89751681 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 140058921 | intron variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 55617974 | non coding transcript exon variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 50151757 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 4 | 101302229 | intron variant | C/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 35253282 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.882 | 0.160 | 12 | 111395984 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 |