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 | 15222140 | upstream gene variant | G/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 4414290 | intergenic variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 130369801 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 14903407 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 87152280 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 96437010 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 6 | 96617336 | downstream gene variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 8 | 24186788 | intergenic variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 18 | 46108610 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 115662708 | intron variant | A/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 61141904 | intron variant | C/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 30125002 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 8 | 130021250 | upstream gene variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 116419515 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 128380874 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 102988961 | intron variant | A/G | snv | 0.41 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 54202605 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 67093414 | regulatory region variant | T/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
11 | 0.752 | 0.280 | 19 | 41345604 | intron variant | C/A | snv | 0.51 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 11 | 10652192 | missense variant | T/A;C | snv | 0.76 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 131125651 | regulatory region variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 51029595 | intron variant | T/C | snv | 0.88 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 131840694 | missense variant | G/A;T | snv | 0.47 | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.040 | 2 | 233919016 | intron variant | G/A | snv | 7.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 2 | 216343848 | intron variant | C/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 |