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 | 0.120 | 17 | 1761175 | upstream gene variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 1761607 | upstream gene variant | G/A | snv | 0.26 | 0.020 | 0.500 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 157136953 | downstream gene variant | G/A | snv | 7.9E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 29215854 | intron variant | A/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.120 | 3 | 57928451 | 3 prime UTR variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 48602322 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 57927987 | 3 prime UTR variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 158271107 | upstream gene variant | C/A | snv | 0.49 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 5306434 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 82151406 | intron variant | T/A | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 18 | 43695432 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 125733372 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 109742339 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 94213172 | intron variant | A/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 17 | 64370017 | missense variant | A/G | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.120 | 6 | 34242693 | intron variant | -/C | delins | 7.7E-02; 5.8E-06 | 5.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 4 | 73413512 | synonymous variant | C/T | snv | 1.1E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | 1 | 224260357 | intron variant | C/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 115906039 | intergenic variant | A/T | snv | 2.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 7085094 | intron variant | A/G | snv | 8.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 13 | 75609137 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 1 | 243998680 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 94221997 | intron variant | A/G | snv | 8.7E-02 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 166962488 | regulatory region variant | A/G | snv | 5.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 7 | 134448044 | missense variant | G/A | snv | 6.4E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 |