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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.020 | 1.000 | 2 | 2007 | 2019 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 2 | 55080510 | 5 prime UTR variant | C/A | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 11 | 72814066 | upstream gene variant | C/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 12 | 50819982 | 3 prime UTR variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 55050090 | missense variant | C/T | snv | 0.12 | 6.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 2 | 55001811 | intron variant | A/G | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 54977988 | intron variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 55080901 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.240 | 9 | 125241510 | upstream gene variant | CC/-;C;CCC;CCCC | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 8 | 127736252 | synonymous variant | C/T | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.060 | 0.667 | 6 | 2006 | 2018 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.050 | 0.800 | 5 | 2014 | 2018 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.050 | 0.600 | 5 | 2006 | 2018 | |||
|
4 | 0.925 | 0.240 | 6 | 29643654 | intergenic variant | C/T | snv | 0.39 | 0.740 | 1.000 | 5 | 2009 | 2018 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.040 | 0.500 | 4 | 2011 | 2018 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.040 | 1.000 | 4 | 2013 | 2018 | |||
|
2 | 1.000 | 0.120 | 13 | 23631056 | intron variant | A/G | snv | 0.20 | 0.730 | 1.000 | 4 | 2010 | 2018 | ||||
|
8 | 0.882 | 0.160 | 6 | 31295974 | intron variant | T/C | snv | 0.20 | 0.720 | 1.000 | 3 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
1 | 1.000 | 0.120 | 6 | 30204594 | intron variant | T/A | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 |