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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 6 | 160348669 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 10 | 46009499 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 97862320 | intergenic variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 3 | 53849695 | synonymous variant | C/A;G;T | snv | 8.0E-06; 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 34652333 | intron variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 11 | 284257 | synonymous variant | G/A;C | snv | 0.16; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 38774614 | missense variant | A/G | snv | 6.4E-02 | 4.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 7 | 140914412 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 7 | 140792239 | intron variant | T/C | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 17 | 42727721 | frameshift variant | G/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 16 | 56834788 | intron variant | A/G | snv | 0.47 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 22 | 28703554 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 5 | 157208978 | synonymous variant | T/C | snv | 1.6E-04 | 7.8E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 22 | 21025856 | synonymous variant | C/G;T | snv | 4.3E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 57348630 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 22 | 28695186 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 147532671 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 16 | 2761565 | missense variant | C/T | snv | 5.7E-04 | 7.1E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 45947356 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 88998592 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 140858940 | intron variant | G/C | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 36235879 | upstream gene variant | A/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 140806604 | intron variant | T/A | snv | 5.5E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 4 | 54228462 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 14 | 36242363 | intergenic variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2019 | 2019 |