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 | 1.000 | 0.040 | 6 | 31278044 | non coding transcript exon variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 31335459 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 31302097 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 31293408 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31293419 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 31293499 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 31297485 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.882 | 0.160 | 6 | 31297713 | intron variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31344135 | intron variant | G/C;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31344281 | intron variant | C/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31358852 | upstream gene variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31358841 | upstream gene variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31289848 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 31286219 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 31283046 | intron variant | C/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 31299645 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 6 | 31301377 | intron variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 31297358 | intron variant | C/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 6 | 31296356 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 6 | 31295745 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 6 | 31295733 | intron variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 31292620 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 31292554 | intron variant | G/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 31292153 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 6 | 31292021 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |