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 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 9 | 2011 | 2019 | ||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 8 | 2009 | 2018 | ||||
|
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 | ||||
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 8 | 2009 | 2018 | ||||
|
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 | |||||||
|
3 | 6 | 150683634 | 5 prime UTR variant | G/C | snv | 8.6E-02 | 0.700 | 1.000 | 6 | 2013 | 2019 | ||||||
|
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 | ||||||
|
19 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 5 | 2016 | 2019 | ||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 5 | 2011 | 2018 | ||||||
|
5 | 19 | 11416089 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 5 | 2016 | 2019 | |||||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 5 | 2009 | 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 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 5 | 2009 | 2018 | ||||
|
12 | 0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 5 | 2017 | 2019 | ||||
|
4 | 11 | 61510774 | 3 prime UTR variant | T/C | snv | 0.16 | 0.700 | 1.000 | 5 | 2016 | 2019 | ||||||
|
3 | 7 | 45968511 | intron variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2016 | 2017 | |||||||
|
6 | 1.000 | 0.080 | 2 | 26691496 | upstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
2 | 4 | 105990585 | intron variant | G/C | snv | 0.70 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||||
|
9 | 1.000 | 0.040 | 4 | 155724361 | intron variant | C/A | snv | 0.22 | 0.700 | 1.000 | 4 | 2011 | 2018 | ||||
|
5 | 6 | 126794309 | intron variant | C/G;T | snv | 0.36 | 0.700 | 1.000 | 4 | 2013 | 2018 |