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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 3 | 95969999 | intergenic variant | A/G;T | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 15 | 82544529 | 3 prime UTR variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 87085541 | 3 prime UTR variant | A/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | Y | 12678428 | intron variant | T/G | snv | 4.6E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 0.500 | 2 | 2006 | 2012 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 0.500 | 2 | 2006 | 2012 | |||
|
3 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.120 | 2 | 49154446 | 5 prime UTR variant | C/T | snv | 0.32 | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.080 | 21 | 44261270 | splice region variant | T/C | snv | 0.70 | 0.75 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 21 | 44259375 | intron variant | T/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.776 | 0.280 | 4 | 24799565 | missense variant | C/T | snv | 8.8E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
19 | 0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 11 | 36573327 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
11 | 0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 11 | 36575763 | missense variant | A/G | snv | 0.19 | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 7 | 17305990 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 108259068 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
32 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 0.020 | 1.000 | 2 | 2009 | 2014 |