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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.080 | 1 | 161662856 | upstream gene variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 9 | 35612990 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
7 | 0.790 | 0.200 | 2 | 203876143 | downstream gene variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | 19 | 12940307 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.200 | 6 | 137219288 | missense variant | C/T | snv | 1.3E-03 | 4.1E-04 | 0.030 | 1.000 | 3 | 1999 | 2007 | |||
|
1 | 1.000 | 0.080 | X | 154018721 | missense variant | A/T | snv | 5.1E-03 | 1.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.160 | 1 | 207472977 | synonymous variant | G/A;T | snv | 0.34; 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 161673197 | missense variant | A/T | snv | 2.4E-03 | 4.4E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.790 | 0.320 | 19 | 17193427 | intron variant | C/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 17 | 16972018 | missense variant | G/A;T | snv | 7.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.776 | 0.360 | 19 | 17203024 | non coding transcript exon variant | G/A | snv | 0.52 | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 169596008 | missense variant | T/C | snv | 1.5E-03 | 6.4E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 1 | 161671506 | missense variant | A/C | snv | 6.4E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 17 | 16948968 | missense variant | C/T | snv | 2.0E-03 | 2.6E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.807 | 0.160 | 18 | 63903295 | missense variant | C/G | snv | 0.29 | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 1 | 169612974 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2007 | 2007 |