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 | 5 | 159315006 | 3 prime UTR variant | G/T | snv | 0.87 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 14 | 56566358 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 8 | 101819970 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.752 | 0.160 | 11 | 27678578 | intron variant | C/T | snv | 0.82 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
3 | 1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 16 | 54055160 | intron variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 2 | 200703710 | intron variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 18 | 59812296 | intergenic variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 1.000 | 0.080 | 21 | 37630840 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 1.000 | 0.080 | 21 | 37630485 | intron variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37637001 | intron variant | A/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37635807 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37636237 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37636327 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 5 | 54296531 | intron variant | G/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 2 | 216033935 | intron variant | G/A | snv | 0.73 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 21 | 37625399 | synonymous variant | G/A | snv | 0.71 | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.080 | 21 | 37625791 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37622867 | 3 prime UTR variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37622840 | 3 prime UTR variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37629311 | intron variant | T/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37633439 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37628875 | intron variant | C/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 |