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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.160 | 5 | 156963286 | upstream gene variant | T/C | snv | 0.56 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
13 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||
|
3 | 5 | 75341886 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||||
|
4 | 1 | 62583880 | intron variant | A/C;G | snv | 0.800 | 1.000 | 4 | 2013 | 2019 | |||||||
|
3 | 11 | 126374057 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
3 | 6 | 160157828 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
17 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
4 | 19 | 19225799 | intron variant | C/T | snv | 9.4E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
7 | 9 | 104903458 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||||
|
2 | 6 | 34578783 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2018 | |||||||
|
8 | 0.882 | 0.120 | 6 | 32444658 | 3 prime UTR variant | G/A | snv | 0.13 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
3 | 6 | 16127176 | upstream gene variant | C/T | snv | 0.27 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
8 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 0.800 | 1.000 | 4 | 2013 | 2019 | |||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||
|
3 | 17 | 47347749 | intron variant | G/A;T | snv | 0.47 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
11 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 |