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 | 0.925 | 0.240 | 6 | 29643654 | intergenic variant | C/T | snv | 0.39 | 0.740 | 1.000 | 5 | 2009 | 2018 | ||||
|
2 | 1.000 | 0.120 | 6 | 29702484 | regulatory region variant | A/G | snv | 0.24 | 0.720 | 1.000 | 3 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.120 | 6 | 32624960 | upstream gene variant | A/G | snv | 6.9E-02 | 0.710 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 11 | 69211113 | regulatory region variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 12 | 73596057 | intergenic variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | X | 51467205 | downstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | 12 | 88592239 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.120 | 13 | 23553071 | intergenic variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 29708939 | upstream gene variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29710175 | upstream gene variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 5 | 56727256 | intergenic variant | T/C;G | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 88859459 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 5 | 1300469 | intergenic variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 6 | 29639652 | upstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 6 | 29639269 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 6 | 30758971 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 |