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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 17 | 37737784 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 19 | 50851141 | upstream gene variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 22292652 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 102525876 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 13 | 50871978 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 23670998 | intergenic variant | T/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 50868163 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 19 | 50895632 | non coding transcript exon variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | X | 17802225 | intron variant | G/A | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 50881997 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 127330621 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 50887097 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 50886304 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 50876637 | synonymous variant | C/T | snv | 0.35 | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 3 | 141414608 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 120915337 | intergenic variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 13 | 50513307 | intron variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 205673662 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 14428515 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 27805490 | intron variant | C/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 60532612 | intron variant | G/C;T | snv | 0.82 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.040 | 2 | 60535367 | 3 prime UTR variant | T/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 19 | 50842312 | intron variant | C/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 19 | 50849681 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 |