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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 6 | 10953011 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 103397233 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 32337136 | intron variant | C/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 52780882 | non coding transcript exon variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 51293045 | regulatory region variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 4 | 59883111 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 21 | 43984239 | 3 prime UTR variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 6 | 32168770 | 3 prime UTR variant | T/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 7345864 | intron variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 61978819 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 9 | 11402319 | intron variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 61779765 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 10 | 116638460 | synonymous variant | A/G | snv | 0.38 | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 62024415 | intergenic variant | A/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 61955173 | synonymous variant | C/A | snv | 0.21 | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1 | 211744902 | 3 prime UTR variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 7053052 | intron variant | G/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 10 | 100542700 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 61868654 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 62028114 | intergenic variant | T/G | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 165337081 | intergenic variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 18 | 21681452 | intron variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 46291989 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 19 | 46292921 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291810 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 |