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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
5 | 0.851 | 0.160 | 9 | 22098620 | intron variant | A/G | snv | 0.40 | 0.710 | 1.000 | 2 | 2010 | 2015 | ||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 26662857 | intron variant | C/T | snv | 0.11 | 0.710 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 5 | 32073460 | intron variant | A/G | snv | 0.34 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 149875124 | intron variant | G/A | snv | 7.9E-02 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 8 | 63191534 | intron variant | A/G | snv | 0.12 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 163609768 | intergenic variant | A/G | snv | 0.45 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.710 | 1.000 | 1 | 2004 | 2004 | |||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 85534925 | upstream gene variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 6026173 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 55475197 | intron variant | C/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 580902 | synonymous variant | C/G;T | snv | 0.16; 2.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 4 | 118796479 | intron variant | A/G | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.200 | 9 | 22067594 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 45925913 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 9 | 125460061 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 84338144 | intergenic variant | C/T | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 3674884 | intron variant | G/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 154424940 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 8 | 139800104 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 21 | 42366262 | intron variant | G/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |