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 | 0.080 | 2 | 47804943 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 47801045 | missense variant | C/A;G | snv | 8.4E-06 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47800158 | missense variant | C/G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 47800037 | missense variant | G/C | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 47803546 | missense variant | C/G;T | snv | 7.6E-05; 4.0E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47800343 | missense variant | C/G;T | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 47800298 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 37020399 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 0.700 | 1.000 | 11 | 1996 | 2008 | |||
|
1 | 1.000 | 0.080 | 3 | 37028789 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 11 | 1996 | 2008 | ||||
|
1 | 1.000 | 0.080 | 3 | 37017518 | missense variant | A/G | snv | 2.5E-04 | 1.3E-04 | 0.700 | 1.000 | 11 | 1996 | 2008 | |||
|
1 | 1.000 | 0.080 | 3 | 37047589 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1996 | 2008 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv | 0.800 | 1.000 | 10 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv | 0.800 | 1.000 | 10 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 47410334 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 4 | 1998 | 2005 | |||
|
1 | 1.000 | 0.080 | 2 | 47403229 | missense variant | G/A;T | snv | 1.4E-05 | 0.700 | 1.000 | 4 | 1998 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 221724004 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.080 | 15 | 32712046 | intergenic variant | G/A | snv | 0.47 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 87566646 | intron variant | G/A | snv | 0.39 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 135141069 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
1 | 1.000 | 0.080 | 7 | 2250887 | synonymous variant | C/T | snv | 0.18 | 0.16 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
1 | 1.000 | 0.080 | 14 | 54093300 | regulatory region variant | T/C | snv | 0.48 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | MT | 7275 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.080 | MT | 6277 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.080 | 18 | 48923195 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 |