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 | 3 | 37025932 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 21303189 | missense variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 5989891 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 21304500 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 8 | 42283031 | intron variant | G/T | snv | 0.22 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.080 | 10 | 52764898 | downstream gene variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 7 | 5987422 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 8 | 42323198 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 14 | 70727436 | 3 prime UTR variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 12 | 47879066 | missense variant | A/C;G | snv | 4.0E-06; 1.9E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 3 | 12622336 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 7 | 140800368 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 3 | 122260843 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 3 | 75329934 | non coding transcript exon variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 3 | 75330074 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 5 | 80633984 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 12 | 132643933 | frameshift variant | TA/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 4 | 174462542 | intergenic variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 22 | 21769233 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 22 | 30617374 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 7 | 45921122 | missense variant | T/C | snv | 1.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 7 | 55142324 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 12 | 71584007 | missense variant | T/C | snv | 7.4E-02 | 8.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 2 | 96143592 | 3 prime UTR variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 3 | 122261339 | intron variant | G/T | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |