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 | 1.000 | 0.080 | 9 | 6237547 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 3 | 143169201 | intergenic variant | C/T | snv | 0.11 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 0.827 | 0.280 | 17 | 39657827 | missense variant | G/A | snv | 0.62 | 0.52 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 9 | 6219176 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 5 | 132641435 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 102432614 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 197356778 | intron variant | T/A;G | snv | 0.810 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 39672492 | missense variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 102426252 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 39963001 | intron variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39981370 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39665182 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 40025976 | intron variant | G/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 5 | 60073967 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2011 | |||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
5 | 0.882 | 0.200 | 3 | 32973977 | regulatory region variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
7 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39709752 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39661229 | non coding transcript exon variant | T/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
5 | 0.827 | 0.280 | 6 | 127957653 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
3 | 0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102340888 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 |