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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 9 | 101460951 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 168984064 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
12 | 0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.040 | 6 | 24491247 | intron variant | A/C | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 21439960 | upstream gene variant | A/C | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 126413890 | intron variant | C/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.120 | 19 | 48703346 | synonymous variant | C/T | snv | 0.49 | 0.42 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 17 | 7188331 | downstream gene variant | T/C | snv | 0.37 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 8 | 9320758 | intron variant | A/T | snv | 0.85 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 16 | 72186474 | regulatory region variant | G/C | snv | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 25317451 | intron variant | A/G | snv | 0.58 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 10 | 63374062 | intron variant | A/G | snv | 0.43 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2008 | 2013 | |||||
|
1 | 8 | 70196313 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 10 | 63515167 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 10 | 63358443 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 0.882 | 0.080 | 11 | 126406065 | 5 prime UTR variant | T/A;C | snv | 6.4E-06; 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 118618067 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 8 | 118947686 | intron variant | A/C;T | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 107664388 | intron variant | T/A | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 291521 | non coding transcript exon variant | A/T | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 |