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 | 0.925 | 0.080 | 20 | 5967581 | missense variant | G/A | snv | 4.5E-02 | 4.2E-02 | 0.800 | 1.000 | 6 | 2009 | 2019 | |||
|
10 | 12 | 56752285 | missense variant | T/G | snv | 0.12 | 0.14 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||
|
1 | 16 | 11923062 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||
|
4 | 0.925 | 0.120 | 19 | 55322296 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.040 | 19 | 55308477 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 3 | 2009 | 2013 | ||||
|
2 | 19 | 55809297 | missense variant | G/A | snv | 0.32 | 0.26 | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||
|
2 | 5 | 176951573 | synonymous variant | G/T | snv | 0.51 | 0.58 | 0.800 | 1.000 | 3 | 2009 | 2015 | |||||
|
4 | 0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 | 0.800 | 1.000 | 2 | 2012 | 2013 | |||
|
1 | 14 | 20470092 | intron variant | A/C | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 6 | 10897255 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 20 | 5954739 | intron variant | T/C | snv | 0.84 | 0.84 | 0.800 | 1.000 | 2 | 2009 | 2013 | |||
|
3 | 0.925 | 0.080 | 8 | 38120214 | intron variant | T/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1 | 38914713 | intron variant | T/C | snv | 0.55 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
2 | 4 | 83452469 | intron variant | A/G | snv | 0.60 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
1 | 13 | 60539605 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
1 | 2 | 171134461 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 81524000 | intergenic variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 2 | 81441684 | intergenic variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 10 | 123228637 | intergenic variant | A/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 11 | 30361352 | intergenic variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 225360907 | intergenic variant | C/T | snv | 0.64 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 241877473 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 106855364 | intergenic variant | T/C | snv | 9.3E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 9 | 79730966 | downstream gene variant | G/A | snv | 0.78 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.120 | 2 | 27492549 | intron variant | C/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 |