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 | 15 | 101528701 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 12876791 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 6 | 135167358 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 19 | 4061546 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 12831936 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 19 | 32871878 | upstream gene variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 33273956 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 19 | 12847036 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 10 | 88550323 | intron variant | T/A;C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 25582529 | intron variant | C/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 2 | 60410521 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 135124041 | intergenic variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 135124064 | intergenic variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 0.040 | 16 | 30903305 | 3 prime UTR variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.925 | 0.120 | 7 | 151708919 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 14 | 85653458 | 3 prime UTR variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 135108955 | regulatory region variant | G/A | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 7 | 50626161 | intron variant | G/A | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 213793544 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 2 | 46126027 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 6 | 25454787 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 6 | 41800772 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 7 | 44768624 | 3 prime UTR variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 41936044 | missense variant | A/C;G;T | snv | 0.54; 1.6E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 4 | 156921244 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 |