Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 22 | 32493269 | missense variant | C/G;T | snv | 4.8E-05 |
|
Eye Diseases; Nervous System Diseases | 0.800 | 1.000 | 3 | 2008 | 2013 | |||||||
|
22 | 32491795 | non coding transcript exon variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 32491962 | non coding transcript exon variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32492635 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32480660 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 22 | 32479203 | start lost | G/A;C | snv | 0.45; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
22 | 32498965 | downstream gene variant | GTTTT/-;GTTTTGTTTT | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 32498965 | downstream gene variant | GTTTT/-;GTTTTGTTTT | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 32491745 | non coding transcript exon variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32491674 | non coding transcript exon variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 32477140 | intron variant | G/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32477140 | intron variant | G/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 32478564 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 32489562 | non coding transcript exon variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32489793 | non coding transcript exon variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32486821 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32487116 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32487116 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 32487141 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 32487295 | non coding transcript exon variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 32487295 | non coding transcript exon variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32483630 | intron variant | G/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32487357 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32476271 | intron variant | A/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32484598 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |