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 | 5 | 92222904 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 150869278 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 149290764 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 10 | 69180045 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | X | 22129934 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 17 | 49488950 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 8 | 4442361 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 119966578 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.040 | 10 | 95037713 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 4 | 145932013 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 13719110 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 5 | 54606509 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 15 | 54576470 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | X | 146667390 | intergenic variant | T/G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 6 | 29466637 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | X | 98609356 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 110491187 | non coding transcript exon variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 60841619 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 97996820 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 45775926 | stop gained | A/G;T | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 15922707 | intergenic variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 154394970 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 6 | 135679865 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 3334100 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 18 | 12606464 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |