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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 7 | 50360284 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
3 | 11 | 65583893 | non coding transcript exon variant | G/A | snv | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.700 | 1.000 | 2 | 2013 | 2017 | |||
|
7 | 9 | 4852599 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
4 | 12 | 4223312 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||||
|
2 | 1 | 117708521 | regulatory region variant | C/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 6 | 41957260 | intron variant | C/T | snv | 7.0E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 4 | 15601446 | 3 prime UTR variant | G/C;T | snv | 0.58; 9.4E-06 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 9 | 137205865 | missense variant | C/G | snv | 0.13 | 0.12 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 14 | 65020976 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 15 | 44427813 | 5 prime UTR variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 16 | 88977046 | 5 prime UTR variant | T/C | snv | 3.7E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 16 | 120077 | intron variant | G/C | snv | 2.5E-02 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
2 | 1 | 198626376 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2010 | 2017 | |||||||
|
2 | 16 | 88500003 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 1 | 154318779 | upstream gene variant | G/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 3 | 20064181 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
14 | 16 | 249924 | intron variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 22 | 36362502 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
11 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 14 | 73771327 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
7 | 3 | 24301839 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
3 | 20 | 53605567 | intron variant | C/T | snv | 8.1E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 1 | 3080038 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 11 | 2298783 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2016 | 2019 |