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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 17 | 39872867 | intron variant | C/G;T | snv | 0.720 | 1.000 | 3 | 2011 | 2019 | |||||
|
5 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.710 | 1.000 | 2 | 2010 | 2011 | |||
|
9 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
4 | 0.925 | 0.160 | 17 | 39867492 | upstream gene variant | A/G | snv | 0.38 | 0.710 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.160 | 17 | 39877024 | 3 prime UTR variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 17 | 39868955 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 17 | 39868373 | synonymous variant | C/T | snv | 0.40 | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 17 | 39869916 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 17 | 39873952 | intron variant | T/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 56620870 | intron variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 49361940 | 5 prime UTR variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 113979934 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 113987250 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 52029018 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 52083666 | intron variant | T/C;G | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 10 | 62631615 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 6 | 28997735 | intron variant | G/A | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 8 | 104799137 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 88503726 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 20 | 63748397 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 57000851 | 3 prime UTR variant | G/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 3 | 141431184 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 114071429 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 11 | 102123167 | intron variant | G/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |