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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 16 | 83730599 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 8 | 2009 | 2018 | ||||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 8 | 2009 | 2018 | ||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 5 | 2009 | 2018 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 5 | 2009 | 2018 | ||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 3 | 2009 | 2018 | |||
|
10 | 0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2009 | 2018 | |||||
|
10 | 0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2009 | 2017 | ||||
|
5 | 0.925 | 0.040 | 17 | 45130754 | intron variant | A/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2009 | 2017 | ||||
|
6 | 1.000 | 0.040 | 11 | 16880721 | intron variant | C/A;T | snv | 0.24 | 0.700 | 1.000 | 2 | 2009 | 2017 | ||||
|
5 | 1.000 | 0.040 | 3 | 169383111 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
2 | 10 | 18441439 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
10 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 9 | 2011 | 2019 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 8 | 2011 | 2019 | ||||
|
10 | 0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv | 0.700 | 1.000 | 8 | 2011 | 2018 | |||||
|
9 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 8 | 2011 | 2018 | ||||
|
8 | 1.000 | 0.040 | 17 | 46935905 | 3 prime UTR variant | T/C | snv | 9.2E-02 | 0.700 | 1.000 | 7 | 2011 | 2019 | ||||
|
10 | 0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv | 0.700 | 1.000 | 7 | 2011 | 2019 | |||||
|
6 | 5 | 158418394 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 6 | 2011 | 2018 | |||||||
|
6 | 12 | 115114632 | intergenic variant | A/G | snv | 0.38 | 0.700 | 1.000 | 6 | 2011 | 2019 | ||||||
|
9 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.700 | 1.000 | 5 | 2011 | 2018 | ||||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 5 | 2011 | 2018 | ||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 5 | 2011 | 2018 | |||
|
9 | 1.000 | 0.040 | 4 | 155724361 | intron variant | C/A | snv | 0.22 | 0.700 | 1.000 | 4 | 2011 | 2018 | ||||
|
16 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 0.700 | 1.000 | 4 | 2011 | 2019 |