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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.865 | 89 | 1994 | 2019 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.100 | 0.727 | 22 | 1994 | 2019 | |||
|
3 | 0.925 | 0.080 | 1 | 230710026 | synonymous variant | G/A;C | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2000 | 2003 | ||||
|
5 | 1 | 230712956 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
4 | 1 | 230713613 | intron variant | T/C | snv | 0.57 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 1.000 | 0.040 | 1 | 230713736 | intron variant | C/T | snv | 0.15 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 1.000 | 0.120 | 1 | 230713085 | intron variant | C/T | snv | 0.24 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.040 | 1 | 230714337 | intron variant | C/T | snv | 0.16 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
5 | 0.882 | 0.160 | 1 | 230714126 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
3 | 1.000 | 0.040 | 1 | 230713444 | intron variant | C/T | snv | 0.43 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
1 | 1 | 230713350 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.120 | 1 | 230711810 | intron variant | C/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.160 | 1 | 230702512 | downstream gene variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1 | 230714053 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 230707811 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 0.925 | 0.120 | 1 | 230713948 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1 | 230702585 | 3 prime UTR variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.882 | 0.040 | 1 | 230710211 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 |