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 | 12 | 73136489 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156214477 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73157487 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73139547 | intron variant | A/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73156312 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73156497 | upstream gene variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73157101 | upstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73157791 | upstream gene variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73153274 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73192799 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156214667 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156187160 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 17 | 10989753 | intergenic variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 73160134 | intron variant | C/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73160218 | intron variant | T/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73162120 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73137889 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73266151 | intergenic variant | C/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73159309 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73159402 | non coding transcript exon variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 73159438 | non coding transcript exon variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156211216 | 3 prime UTR variant | C/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156214807 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156226097 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156233018 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2014 | 2014 |