Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 4 | 38809930 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 4 | 38829975 | intron variant | G/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 4 | 38811255 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 4 | 38811255 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 4 | 38790903 | non coding transcript exon variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 4 | 38813881 | intron variant | A/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 4 | 38805206 | 5 prime UTR variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
4 | 38804475 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38804398 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.120 | 4 | 38804362 | 5 prime UTR variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
4 | 38803868 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38801442 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.080 | 4 | 38801023 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 4 | 38800907 | 5 prime UTR variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 4 | 38799664 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
4 | 38797155 | synonymous variant | C/T | snv | 3.0E-04 | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
4 | 38797155 | synonymous variant | C/T | snv | 3.0E-04 | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
4 | 38831586 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
4 | 38831106 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 38845390 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38846296 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.080 | 4 | 38814717 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
4 | 38842128 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 |