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 | 127279984 | intron variant | A/G;T | snv | 0.75 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 34737712 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127547621 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.925 | 0.120 | 2 | 27563321 | intron variant | A/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 20 | 35131884 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35132230 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 33861523 | regulatory region variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.080 | 20 | 34437762 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 20 | 35017295 | intron variant | C/T | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127332568 | intron variant | G/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35002614 | 3 prime UTR variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127570800 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35043604 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127584028 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35187397 | intron variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35148894 | upstream gene variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 2 | 53010182 | intergenic variant | G/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 2 | 127393427 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127365986 | intron variant | C/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127198967 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127438822 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127374277 | non coding transcript exon variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35049257 | intron variant | T/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35155806 | intergenic variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35213480 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 |