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 | 6 | 134938228 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 135190449 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 50384854 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 100768580 | intron variant | C/G;T | snv | 0.34 | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 7 | 100622306 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 100768661 | missense variant | T/C | snv | 0.35 | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 7 | 50393986 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 50389939 | intron variant | G/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 100709915 | downstream gene variant | G/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.120 | 6 | 25589996 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 22 | 32491795 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 22 | 32491962 | non coding transcript exon variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 32492635 | non coding transcript exon variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 111489097 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 32480660 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 6 | 32339605 | missense variant | G/A | snv | 0.40 | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.120 | 6 | 25492136 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 17 | 20024386 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28816792 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 199043349 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 87128698 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 12876791 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 19 | 4500193 | intron variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 134855038 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 6 | 135167358 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |