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 | 9 | 129176634 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 43771130 | missense variant | G/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 53229594 | synonymous variant | G/A | snv | 4.3E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 7 | 100890786 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 76969157 | 3 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 9 | 133657806 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 108141755 | intergenic variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 113396099 | missense variant | G/A | snv | 0.25 | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 227531108 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 53229264 | synonymous variant | C/T | snv | 0.17 | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 1.000 | 4 | 2004 | 2013 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.090 | 1.000 | 9 | 2004 | 2019 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.050 | 1.000 | 5 | 2004 | 2020 | |||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2016 | 2016 |