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 | 2 | 233718962 | missense variant | T/A;G | snv | 4.0E-05; 0.11 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 166036257 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.020 | 1.000 | 2 | 2009 | 2017 | |||
|
1 | 1.000 | 0.040 | 4 | 149804060 | intron variant | T/C | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 87535576 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 32219828 | intron variant | A/G | snv | 0.57 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 168143620 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 85938055 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 11 | 112211286 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 4644367 | regulatory region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 21 | 25561470 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 57706920 | intergenic variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 51807224 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 97027769 | frameshift variant | -/G | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 10 | 95384282 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 114005041 | intron variant | C/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | X | 48911564 | missense variant | G/T | snv | 1.1E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 103989335 | missense variant | G/A;C | snv | 5.0E-06; 5.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 166073566 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 99648291 | 3 prime UTR variant | A/G | snv | 0.17 | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 10 | 76949279 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 161294312 | synonymous variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 17 | 8158784 | intron variant | G/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | X | 18650520 | stop gained | C/A;T | snv | 5.5E-06; 1.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 57867738 | intergenic variant | A/C | snv | 0.70 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 31149735 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 |