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 | 11 | 61944003 | regulatory region variant | T/G | snv | 0.91 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 68627895 | non coding transcript exon variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 95231973 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 61879816 | intron variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 170462384 | intron variant | A/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 6 | 10908684 | intron variant | G/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 16 | 13061021 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 10911049 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 11 | 61872016 | downstream gene variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 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 | ||||||
|
2 | 6 | 32159700 | intron variant | C/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 11 | 61857233 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 11 | 61872101 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 11 | 61887833 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 11 | 61888710 | intron variant | C/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 61890454 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10982419 | 3 prime UTR variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 11058952 | intron variant | T/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 11044963 | non coding transcript exon variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.925 | 0.120 | 2 | 27527679 | downstream gene variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 6 | 10961172 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 |