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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 2 | 107992192 | missense variant | A/G | snv | 9.3E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 12 | 16599165 | non coding transcript exon variant | A/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 13 | 76978136 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 34876494 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 10976402 | regulatory region variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 112569669 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 34881321 | intron variant | T/C | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 51815127 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 160688380 | intergenic variant | C/T | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 19 | 8995481 | intergenic variant | C/G | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
8 | 0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.200 | 1 | 226402257 | missense variant | G/A;C | snv | 0.22; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.160 | 12 | 13561429 | 3 prime UTR variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.200 | 12 | 13561247 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 6 | 98102413 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 10 | 23416522 | intergenic variant | T/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 13 | 83878728 | 3 prime UTR variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 58636438 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 13 | 83880244 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 36676981 | missense variant | G/C | snv | 2.5E-02 | 1.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.882 | 0.160 | 1 | 203129147 | synonymous variant | T/G | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 18 | 27952340 | missense variant | T/C | snv | 2.5E-02 | 2.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |