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 | 2 | 127438822 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127436236 | 3 prime UTR variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127509268 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127438644 | intron variant | T/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127501795 | non coding transcript exon variant | C/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127466181 | intron variant | T/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127467215 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127515428 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127512533 | intron variant | C/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127515098 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127514892 | non coding transcript exon variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127505900 | intron variant | C/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127502081 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127500632 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127495995 | splice region variant | C/T | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 2 | 127491865 | intron variant | C/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127490064 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127488576 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127485886 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127485759 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127469265 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127494658 | non coding transcript exon variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127438848 | intron variant | T/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127437668 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127437811 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |