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 | 5 | 88477501 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 26542619 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 8 | 58399138 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 9 | 122375416 | 5 prime UTR variant | A/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 17 | 63487006 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 20 | 23046984 | 3 prime UTR variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 17 | 78796097 | 3 prime UTR variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 9 | 14735055 | 3 prime UTR variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 4868325 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 219420587 | synonymous variant | C/T | snv | 0.33 | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 12 | 6044348 | synonymous variant | A/G | snv | 0.31 | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 10 | 18156159 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 101803258 | intron variant | C/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 100794914 | intron variant | C/T | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 11 | 47340914 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 94254865 | intron variant | C/G | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 9 | 109998608 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 62182180 | downstream gene variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 74261866 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 16239678 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 121473799 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 114940232 | intergenic variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |