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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 3 | 2011 | 2011 | ||||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
4 | 10 | 103179458 | intron variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
16 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
2 | 5 | 32714164 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||||
|
6 | 1.000 | 0.040 | 10 | 61764833 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
9 | 0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
10 | 0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
5 | 0.925 | 0.120 | 10 | 102836092 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
10 | 0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2019 | |||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
2 | 14 | 70414772 | intron variant | A/C | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 10153562 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 131708291 | upstream gene variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 127457345 | intron variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
10 | 0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 12 | 89632746 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 14 | 92340986 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1.000 | 0.040 | 12 | 47810716 | intron variant | C/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 11 | 130403335 | non coding transcript exon variant | A/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 |