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 | 11 | 67271141 | intron variant | T/C | snv | 0.95 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 148745735 | downstream gene variant | T/C | snv | 0.95 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
6 | 0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 8 | 142914345 | synonymous variant | C/T | snv | 0.90 | 0.94 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 1.000 | 0.120 | 7 | 27181212 | 3 prime UTR variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 7 | 27204343 | intron variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 110409934 | intron variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
13 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
2 | 1.000 | 0.080 | 5 | 76143375 | intron variant | A/G | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1 | 146039555 | upstream gene variant | C/T | snv | 0.89 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.030 | 1.000 | 3 | 2009 | 2018 | |||
|
8 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 6 | 31730575 | 5 prime UTR variant | T/C | snv | 0.88 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 22 | 46903089 | intron variant | T/C | snv | 0.88 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 154592124 | upstream gene variant | C/T | snv | 0.88 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||
|
3 | 17 | 48610894 | missense variant | T/C | snv | 0.88 | 0.88 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 8 | 15143257 | intron variant | G/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.080 | 3 | 186836503 | intergenic variant | T/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 3 | 186835068 | intergenic variant | A/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.040 | 7 | 151011001 | intron variant | A/G | snv | 0.84 | 0.85 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 8 | 119341027 | intergenic variant | G/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2011 | 2011 |