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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 19 | 46293245 | upstream gene variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293510 | upstream gene variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293511 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293937 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 20 | 33894826 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 11 | 61872726 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 103408045 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 19 | 46282441 | regulatory region variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 28618344 | upstream gene variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 95083980 | regulatory region variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 103407580 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 13 | 103407668 | intergenic variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 13 | 103407737 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 13 | 103407783 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 16 | 60280752 | intergenic variant | G/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 103351171 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 18 | 21681452 | intron variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 21 | 43984239 | 3 prime UTR variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 21 | 43984457 | 3 prime UTR variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1 | 95020269 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 95050081 | intron variant | T/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 11 | 61955173 | synonymous variant | C/A | snv | 0.21 | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 |