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 | 0.925 | 0.080 | 4 | 98875633 | 3 prime UTR variant | T/C | snv | 0.56 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 12 | 89947678 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 88932057 | intergenic variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 88925713 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 88329198 | intergenic variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 88328596 | intergenic variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 8795023 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 8792648 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 20 | 8792227 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 8791897 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 20 | 8789461 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 8788533 | splice region variant | C/T | snv | 0.95 | 0.90 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 20 | 8785424 | intron variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 8784642 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 20 | 8769415 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 20 | 8757522 | intron variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 8753616 | intron variant | A/G | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.827 | 0.160 | 16 | 85985910 | upstream gene variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 0.851 | 0.200 | 16 | 85985665 | upstream gene variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 85334170 | intron variant | G/A;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 79730650 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 72678939 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 71925130 | intergenic variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 71923311 | intergenic variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 71921776 | regulatory region variant | C/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 |