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 | 12 | 115118002 | intergenic variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 12 | 89584456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 12 | 20047028 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 173462117 | intergenic variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
12 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 4 | 80246155 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 4 | 155705436 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 234394166 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 11792053 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 1.000 | 0.040 | 10 | 61764833 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 15 | 90885725 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 3 | 169448100 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 2 | 42957589 | intergenic variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 1.000 | 0.040 | 17 | 49372695 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1 | 11905735 | upstream gene variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 41880318 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 3 | 169381003 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 7 | 27249498 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 50729988 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 94524869 | regulatory region variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 4 | 139543924 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 16 | 51576036 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 |