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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1 | 192462868 | intron variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 1 | 11806126 | 5 prime UTR variant | C/T | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 1 | 230712956 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1 | 230714053 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 230708564 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 1 | 230713613 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 215739300 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.882 | 0.120 | 1 | 8441726 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 1 | 88733302 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 230708054 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 11790946 | intron variant | G/C | snv | 0.26; 1.7E-03 | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 182149469 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
11 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.160 | 1 | 230714126 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 11790946 | intron variant | -/C;CACACACACACAC | ins | 6.2E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 1 | 39579628 | upstream gene variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 230709246 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 1.000 | 0.040 | 1 | 26842709 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 |