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 | 0.851 | 0.040 | 16 | 75200974 | downstream gene variant | C/A | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 16 | 10491493 | upstream gene variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 1 | 196846320 | upstream gene variant | T/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 13 | 31247103 | splice region variant | C/T | snv | 0.40 | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.807 | 0.040 | 6 | 43858890 | TF binding site variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 12 | 55721994 | 3 prime UTR variant | C/A | snv | 0.19 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 6 | 44003090 | synonymous variant | G/A | snv | 5.0E-02 | 3.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.040 | 1 | 196737512 | synonymous variant | C/T | snv | 1.0E-02 | 8.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.160 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 0.700 | 1.000 | 3 | 2012 | 2017 | |||
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.700 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 0.925 | 0.040 | 12 | 95210514 | missense variant | T/C | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.040 | 6 | 31874821 | missense variant | T/A | snv | 0.15 | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.040 | 4 | 109764664 | missense variant | C/T | snv | 4.2E-04 | 3.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.827 | 0.040 | 19 | 6718135 | missense variant | T/G | snv | 2.8E-03 | 2.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |