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 | 21 | 43984239 | 3 prime UTR variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 21 | 43984457 | 3 prime UTR variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 21 | 35044035 | intron variant | C/G | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 20 | 45438925 | intron variant | T/C | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 20 | 33894826 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 19 | 52780882 | non coding transcript exon variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 51293045 | regulatory region variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 19 | 46291989 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 19 | 46292921 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291810 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291914 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46288677 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 19 | 46294033 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46294038 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 31105872 | intron variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 19 | 46293976 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291277 | intergenic variant | -/T | delins | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46291852 | intergenic variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46292627 | upstream gene variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46292776 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293161 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293245 | upstream gene variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293510 | upstream gene variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46293511 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 |