| 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 | 4 | 154567149 | intron variant | A/C | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 50661925 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 123153306 | intron variant | G/A | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 42212978 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 5 | 132532143 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 4 | 154562762 | upstream gene variant | C/T | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 65652146 | intergenic variant | A/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 68828731 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 68821715 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 132471932 | non coding transcript exon variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 4 | 154572267 | downstream gene variant | A/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 4 | 154606284 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 5 | 132433482 | intron variant | C/T | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 154565229 | 3 prime UTR variant | C/T | snv | 0.17 | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 4 | 154571072 | 3 prime UTR variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 10 | 89249122 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 7 | 22816987 | intron variant | C/T | snv | 0.48 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 65658091 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 121080764 | regulatory region variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 5 | 132466034 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 4 | 3478409 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 5 | 132313493 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 50666567 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 68806373 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 14 | 68847342 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 |