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 | 1.000 | 0.160 | 22 | 28695868 | frameshift variant | AG/- | del | 0.700 | 1.000 | 22 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.160 | 5 | 92523322 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 5 | 92558085 | intron variant | C/T | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 11 | 32405158 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 22 | 30613852 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 22 | 30615936 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.160 | 22 | 30618390 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 5 | 92571299 | intron variant | A/G | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 11 | 32399987 | synonymous variant | T/C | snv | 1.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.160 | 11 | 32392787 | non coding transcript exon variant | G/T | snv | 9.3E-02 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.160 | 22 | 30622091 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 22 | 30617309 | intron variant | G/A | snv | 8.8E-02 | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.160 | 1 | 55047322 | non coding transcript exon variant | G/A | snv | 0.13 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 22 | 29272015 | intron variant | C/T | snv | 0.98 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 11 | 32392053 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 15589696 | upstream gene variant | T/G | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 5 | 914504 | stop gained | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.160 | 11 | 32402206 | intron variant | T/C | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | X | 17680277 | intron variant | A/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 5 | 92568740 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 11 | 32438918 | non coding transcript exon variant | G/A | snv | 8.3E-02 | 0.16 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.160 | 12 | 65823565 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 |