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 | 16 | 6286911 | intron variant | C/T | snv | 0.56 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
3 | 0.882 | 0.040 | 2 | 20003169 | missense variant | G/A | snv | 1.5E-02 | 1.2E-02 | 0.020 | 1.000 | 2 | 2006 | 2011 | |||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.020 | 0.500 | 2 | 2009 | 2014 | ||||
|
8 | 0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.200 | 14 | 90397013 | intron variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 6 | 54419678 | intergenic variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 6 | 16396238 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.120 | 16 | 27362659 | missense variant | C/T | snv | 3.6E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 60548019 | non coding transcript exon variant | C/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 5 | 132679140 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 14 | 35401592 | 3 prime UTR variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 2 | 47176459 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 4 | 109960942 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 45986582 | upstream gene variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 60541649 | intron variant | G/A;C;T | snv | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 |