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 | 8 | 18451300 | intergenic variant | T/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | X | 125567397 | intergenic variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 90181314 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.200 | 9 | 113391611 | missense variant | C/G | snv | 8.3E-02 | 6.1E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 17 | 50575769 | missense variant | G/A;T | snv | 6.8E-03; 6.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.040 | 7 | 56104344 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 67157406 | intron variant | A/G | snv | 0.63 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 67085957 | intron variant | T/G | snv | 0.35 | 0.720 | 0.667 | 3 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 67090661 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
6 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.060 | 0.500 | 6 | 2006 | 2016 | |||
|
1 | 1.000 | 0.040 | 22 | 29297943 | missense variant | C/T | snv | 6.8E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.040 | 8 | 16992890 | 3 prime UTR variant | G/A | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 8 | 16992989 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 8 | 16993092 | missense variant | C/A;T | snv | 4.0E-05; 5.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 16 | 31189158 | stop gained | C/T | snv | 0.050 | 1.000 | 5 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.040 | 16 | 31190398 | missense variant | C/T | snv | 1.2E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.040 | 16 | 31185061 | missense variant | C/G;T | snv | 1.3E-04; 4.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 16 | 31190282 | missense variant | G/A | snv | 7.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 16 | 31190102 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 16 | 31190983 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.240 | 5 | 161854239 | synonymous variant | T/C | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 6 | 89217243 | missense variant | T/C | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 89217247 | missense variant | T/C | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 |