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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.080 | 14 | 81143584 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
2 | 0.925 | 0.040 | 14 | 81144073 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
3 | 0.882 | 0.040 | 14 | 81143641 | missense variant | G/A | snv | 8.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.120 | 21 | 31668548 | missense variant | G/C;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.080 | 14 | 81096641 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
7 | 0.790 | 0.160 | 14 | 81139828 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.120 | 6 | 32637507 | missense variant | G/A | snv | 5.7E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 17 | 21703291 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
7 | 0.827 | 0.240 | 6 | 43982716 | intergenic variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 45216307 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 8 | 132759389 | 5 prime UTR variant | A/C | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 19512621 | intron variant | A/C | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 49418988 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 5 | 77239986 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.080 | 14 | 81143955 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 6 | 165636631 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.120 | X | 79171491 | missense variant | T/A;C | snv | 5.5E-06; 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 43938518 | regulatory region variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 72380036 | intron variant | G/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 |