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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 5 | 147855193 | upstream gene variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.080 | 8 | 142682129 | synonymous variant | C/A | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 17 | 27800492 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 121538644 | synonymous variant | T/A;C | snv | 1.2E-05; 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.320 | 9 | 117702392 | upstream gene variant | G/A | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 5 | 10454257 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 2 | 31538488 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 5 | 36308995 | intergenic variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.790 | 0.320 | 9 | 117710486 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 |