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 | 0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 22 | 43934248 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 0.925 | 0.040 | 22 | 43998522 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 22 | 43972242 | missense variant | A/G | snv | 0.21 | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 22 | 43981562 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 22 | 43997195 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 1.000 | 16 | 56960280 | upstream gene variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 16 | 56968492 | intron variant | C/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 22 | 43933198 | intron variant | C/A;T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 22 | 43982119 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.040 | 3 | 186854563 | synonymous variant | C/T | snv | 6.4E-05 | 2.6E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 3 | 119806650 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.851 | 0.160 | 22 | 43937292 | intron variant | A/G | snv | 0.25 | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.160 | 1 | 203122146 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.040 | 8 | 9327181 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.160 | 17 | 17506246 | missense variant | C/T | snv | 0.59 | 0.59 | 0.020 | 1.000 | 2 | 2007 | 2019 |