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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.080 | 12 | 52904795 | missense variant | T/C | snv | 4.1E-03 | 3.1E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | 7 | 142751805 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 0.710 | 1.000 | 2 | 2015 | 2018 | ||||
|
9 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.160 | 20 | 38922292 | 3 prime UTR variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 142725721 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 16 | 75242877 | missense variant | G/A;C | snv | 0.68; 4.1E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 106545130 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 119064457 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 106983213 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 16 | 75269081 | upstream gene variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | X | 106940440 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15456025 | upstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 107131628 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 107230661 | intron variant | C/T | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 107123872 | 3 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 107158099 | intron variant | G/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 107281285 | intergenic variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 107043226 | regulatory region variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 |