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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.100 | 1.000 | 11 | 1995 | 2020 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.040 | 1.000 | 4 | 2001 | 2011 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
2 | 0.925 | 0.080 | 11 | 46739293 | missense variant | T/C | snv | 3.2E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.900 | 0.917 | 24 | 2009 | 2018 | ||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.900 | 0.913 | 23 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.200 | 6 | 33058469 | regulatory region variant | A/G;T | snv | 0.28 | 0.710 | 1.000 | 4 | 2009 | 2013 | ||||
|
2 | 0.925 | 0.200 | 6 | 33092219 | non coding transcript exon variant | T/G | snv | 0.33 | 0.720 | 1.000 | 4 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33070989 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.080 | 6 | 33077781 | intron variant | G/A | snv | 0.32 | 0.710 | 0.667 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 33111389 | upstream gene variant | C/T | snv | 4.8E-02 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33091175 | downstream gene variant | G/A | snv | 5.9E-02 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.080 | 21 | 33246788 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
4 | 0.851 | 0.400 | 6 | 33092341 | non coding transcript exon variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
11 | 0.752 | 0.360 | 21 | 33268483 | missense variant | A/G | snv | 0.33 | 0.25 | 0.020 | 1.000 | 2 | 2009 | 2013 | |||
|
3 | 0.882 | 0.280 | 6 | 33093172 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.120 | 8 | 144504357 | missense variant | C/A;T | snv | 8.1E-06; 1.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 21 | 41441838 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |