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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 8 | 105578478 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
1 | 8 | 105578477 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 8 | 105570896 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 143483735 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 69377293 | intron variant | G/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 78977175 | intron variant | G/C | snv | 0.95 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 85066028 | intron variant | C/T | snv | 0.86 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 6044572 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | X | 155195893 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 855724 | intron variant | A/T | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 10 | 69485520 | intron variant | T/C | snv | 8.5E-02 | 0.710 | 0.800 | 5 | 2015 | 2020 | ||||
|
5 | 0.882 | 0.120 | 10 | 69458890 | intron variant | G/C | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 184099374 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 70572040 | intron variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 35030669 | intron variant | T/C | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 4 | 67881214 | intron variant | T/G | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 155595482 | intron variant | G/A | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.050 | 0.600 | 5 | 2003 | 2017 | ||||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.030 | 0.667 | 3 | 2003 | 2013 | |||
|
2 | 20 | 23046984 | 3 prime UTR variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.080 | 20 | 23049378 | missense variant | C/T | snv | 2.0E-03 | 2.5E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
1 | 20 | 23045859 | 3 prime UTR variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 |