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 | 1 | 16178825 | intergenic variant | A/G | snv | 0.47 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
1 | 1 | 155154472 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 178544276 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 23050048 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 200291886 | intron variant | C/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 154114036 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 88680551 | intron variant | C/A | snv | 0.57 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 111141654 | intron variant | A/G;T | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 16184399 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 2 | 2011 | 2018 | |||
|
2 | 1.000 | 0.040 | 2 | 184597314 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 191252512 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 2 | 232655544 | intron variant | A/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 232648465 | intron variant | C/A;G | snv | 0.61 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 213147784 | synonymous variant | C/T | snv | 0.27 | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 168977860 | intron variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 191192680 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 65846418 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 171007753 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 35736301 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 4867756 | intron variant | T/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 149469140 | upstream gene variant | A/G | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 149492656 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 4 | 145900258 | intron variant | C/A | snv | 0.15 | 0.700 | 1.000 | 2 | 2011 | 2018 | ||||||
|
1 | 4 | 145866089 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 |