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 | 1.000 | 0.120 | 14 | 55413329 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 14 | 64309058 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 14 | 64352051 | non coding transcript exon variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 3 | 16583541 | downstream gene variant | A/G | snv | 0.22 | 0.800 | 1.000 | 4 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 15 | 66528912 | missense variant | A/G | snv | 0.23 | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 149650996 | upstream gene variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 10 | 87852267 | intergenic variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 5 | 119526018 | missense variant | A/G | snv | 0.42 | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.120 | 3 | 142100008 | intron variant | C/T | snv | 0.20 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 158708801 | upstream gene variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 12 | 14367767 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 14 | 64225135 | intron variant | C/T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.200 | 14 | 64256807 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 20 | 52091515 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 58579263 | intron variant | A/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 7 | 1929317 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 15 | 55746509 | upstream gene variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 21 | 33415009 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.120 | 19 | 1220396 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2008 | |||||
|
17 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 |