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 | 7 | 29512676 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.040 | 1.000 | 4 | 2001 | 2011 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2011 | ||||
|
1 | 1.000 | 12 | 6232664 | start lost | A/G | snv | 4.9E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 7 | 92470377 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
11 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 11 | 5680051 | missense variant | G/A | snv | 0.13 | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
12 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.060 | 1.000 | 6 | 2010 | 2018 | ||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2010 | 2019 | |||
|
1 | 1.000 | 6 | 30064718 | 3 prime UTR variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 2 | 136115158 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 2 | 136115225 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 19 | 41009375 | missense variant | T/C | snv | 7.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.827 | 0.280 | 19 | 41012316 | missense variant | T/C | snv | 5.1E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.010 | 1.000 | 1 | 2011 | 2011 |