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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 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 | 73156312 | upstream gene variant | G/A;C | snv | 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 | 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 | 12 | 73159309 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1.000 | 0.040 | 1 | 156212919 | upstream gene variant | T/C;G | snv | 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 | 156232968 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156233069 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156191101 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156189426 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1 | 156230880 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156234862 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156195551 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73153712 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156220292 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73159557 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73155046 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156216824 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 12 | 73158334 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 22 | 44103463 | non coding transcript exon variant | A/C | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |