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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 6 | 121837124 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1 | 207851475 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.080 | 7 | 121393067 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 6742916 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
4 | 12 | 53948900 | downstream gene variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||||
|
4 | 1 | 172377408 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||
|
3 | 1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||
|
5 | 22 | 29055683 | 3 prime UTR variant | A/G | snv | 0.41 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||||
|
1 | 5 | 173935455 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
9 | 0.882 | 0.120 | 6 | 43791136 | downstream gene variant | G/A | snv | 0.56 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||
|
6 | 0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||
|
2 | 6 | 127131494 | intron variant | C/G | snv | 0.45 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||
|
3 | 1 | 118961220 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2010 | 2019 | |||||||
|
1 | 6 | 127016554 | intron variant | C/A;G;T | snv | 0.94 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 6 | 126846446 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 1.000 | 0.120 | 6 | 32396178 | synonymous variant | T/C | snv | 0.41 | 0.39 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 6 | 127088737 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 219577375 | regulatory region variant | G/T | snv | 0.23 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 118953038 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 1.000 | 0.080 | 3 | 52472410 | intron variant | C/T | snv | 0.96 | 0.96 | 0.800 | 1.000 | 1 | 2010 | 2010 |