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 | 0.040 | 1 | 196685194 | synonymous variant | A/C | snv | 0.68 | 0.62 | 0.810 | 1.000 | 2 | 2007 | 2013 | |||
|
2 | 1.000 | 0.040 | 1 | 196610909 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 196686613 | intron variant | A/C | snv | 0.64 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196544564 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196993876 | intron variant | T/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196703324 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 1.000 | 0.040 | 1 | 196615338 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196977900 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 196677046 | non coding transcript exon variant | T/G | snv | 0.66 | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 197015549 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
4 | 0.851 | 0.040 | 1 | 196644043 | intergenic variant | T/C | snv | 7.7E-03 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 196600551 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 196855643 | intron variant | T/C | snv | 0.23 | 0.710 | 1.000 | 2 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196704863 | intron variant | A/C | snv | 0.62 | 0.800 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196916214 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
4 | 0.851 | 0.040 | 1 | 196989521 | intron variant | C/G;T | snv | 4.6E-03 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 196705787 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196705140 | intron variant | C/T | snv | 0.71 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196874041 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196874290 | intron variant | C/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.020 | 1.000 | 2 | 2012 | 2012 | |||
|
4 | 0.851 | 0.040 | 1 | 196737512 | synonymous variant | C/T | snv | 1.0E-02 | 8.6E-03 | 0.710 | 1.000 | 2 | 2016 | 2018 | |||
|
5 | 0.882 | 0.120 | 1 | 196717522 | intron variant | A/G;T | snv | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.080 | 1 | 196726612 | synonymous variant | A/G | snv | 0.20 | 0.15 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
2 | 1.000 | 0.040 | 1 | 196682702 | intron variant | T/C | snv | 0.22 | 0.710 | 1.000 | 2 | 2013 | 2019 |