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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 5 | 51394261 | 3 prime UTR variant | A/G;T | snv | 0.030 | 0.333 | 3 | 2012 | 2014 | |||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.810 | 1.000 | 3 | 2011 | 2018 | ||||
|
3 | 1.000 | 0.040 | 5 | 173232938 | synonymous variant | C/G | snv | 9.9E-03 | 2.2E-03 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
10 | 0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 | 0.710 | 1.000 | 2 | 2010 | 2011 | ||||
|
5 | 0.851 | 0.040 | 12 | 124822507 | intron variant | G/A | snv | 0.15 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 1.000 | 0.040 | 17 | 17641390 | regulatory region variant | C/T | snv | 0.36 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 6 | 133875536 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 56500678 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 163641436 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2017 | |||||
|
7 | 0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.040 | 10 | 89245129 | intron variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2011 | 2013 | |||||
|
3 | 0.882 | 0.040 | 21 | 28883961 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 225918985 | intron variant | G/T | snv | 0.020 | 0.500 | 2 | 2018 | 2019 | |||||
|
3 | 0.882 | 0.040 | 5 | 100613278 | intergenic variant | A/T | snv | 0.76 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.882 | 0.040 | 1 | 169549874 | missense variant | C/T | snv | 0.11 | 0.12 | 0.020 | 1.000 | 2 | 2000 | 2000 | |||
|
4 | 0.851 | 0.040 | 9 | 121660124 | intron variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.040 | 6 | 160541471 | intron variant | T/C | snv | 0.13 | 0.710 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 26088870 | intron variant | C/T | snv | 0.10 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.040 | 9 | 22121350 | intron variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 146018957 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 35255752 | upstream gene variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 104259596 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 12 | 128194523 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 6 | 28087717 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 |