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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
15 | 0.763 | 0.400 | 6 | 31306603 | intron variant | T/C | snv | 0.34 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
12 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.800 | 1.000 | 2 | 2009 | 2010 | |||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
9 | 0.807 | 0.240 | 6 | 32098988 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
10 | 0.807 | 0.240 | 6 | 31479019 | downstream gene variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.807 | 0.280 | 6 | 32108722 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.807 | 0.200 | 6 | 31422007 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.807 | 0.280 | 6 | 30311353 | intron variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.807 | 0.280 | 6 | 30070870 | 3 prime UTR variant | T/C;G | snv | 5.2E-02; 7.2E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.827 | 0.240 | 6 | 32059031 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.827 | 0.080 | 15 | 33613209 | missense variant | A/G | snv | 0.23 | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.827 | 0.280 | 6 | 32828974 | missense variant | T/C | snv | 0.31 | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.827 | 0.320 | 6 | 31513328 | upstream gene variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.827 | 0.160 | 6 | 31264334 | downstream gene variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.827 | 0.240 | 6 | 31273255 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
9 | 0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
8 | 0.851 | 0.200 | 6 | 31125810 | 5 prime UTR variant | G/A | snv | 0.25 | 0.800 | 1.000 | 2 | 2009 | 2010 |