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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 5 | 36687754 | 3 prime UTR variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.040 | 11 | 637406 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 1.000 | 0.040 | 11 | 61857233 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
23 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 0.030 | 0.667 | 3 | 2000 | 2007 | |||
|
1 | 1.000 | 0.040 | 11 | 639273 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 16 | 55692146 | intron variant | C/T | snv | 5.3E-03 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 13 | 108163877 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 16 | 84412778 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 9 | 116571404 | intron variant | C/A;G | snv | 0.16 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 9 | 132742896 | intron variant | A/G | snv | 0.33 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 2 | 225373194 | intergenic variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 17 | 3761681 | intron variant | A/G | snv | 0.71 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 11 | 94579157 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 33894257 | intron variant | G/C | snv | 0.82 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 2 | 119564241 | intron variant | A/G | snv | 0.58 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 15 | 90907211 | non coding transcript exon variant | G/A | snv | 0.54 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 6 | 157776137 | intron variant | A/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 12 | 28075634 | intergenic variant | G/A | snv | 0.65 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 15 | 68422693 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 15 | 93493459 | intron variant | A/G | snv | 0.26 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 13 | 93756253 | intron variant | A/G | snv | 0.68 | 0.800 | 1.000 | 1 | 2008 | 2008 |