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 | 1.000 | 0.080 | 11 | 125302697 | intron variant | A/G | snv | 0.30 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 21 | 37654970 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 1 | 31411078 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 1 | 175150943 | downstream gene variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.080 | 3 | 11915124 | upstream gene variant | A/G | snv | 9.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 2 | 216033935 | intron variant | G/A | snv | 0.73 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.080 | 7 | 84008281 | intron variant | A/G | snv | 5.2E-02 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.080 | 12 | 99455122 | intron variant | G/T | snv | 7.6E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 3 | 164872151 | intergenic variant | C/T | snv | 0.24 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 10 | 124546821 | intron variant | G/C | snv | 0.24 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 2 | 226115660 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 165633833 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 20 | 38922292 | 3 prime UTR variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 21 | 37652469 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 175157287 | 3 prime UTR variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 178548873 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 16 | 53786154 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 21 | 37638374 | intron variant | C/A;T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37617262 | 3 prime UTR variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 9 | 104376689 | intergenic variant | A/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 4 | 99332551 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 4 | 161890417 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |