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 | 1.000 | 0.080 | 15 | 26766994 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.040 | 12 | 120925921 | TF binding site variant | T/C | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 2 | 2011 | 2012 | |||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 7 | 999367 | intron variant | A/C | snv | 0.62 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 17 | 81288009 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 3 | 96431316 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 8 | 71382353 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 8 | 31147066 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 1 | 21378943 | regulatory region variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 126665850 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 62516455 | non coding transcript exon variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 8390126 | intron variant | G/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 22 | 37217269 | upstream gene variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 1371339 | intron variant | T/C | snv | 0.55 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 110368883 | intron variant | T/G | snv | 8.7E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 50288880 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 5 | 174283195 | intergenic variant | T/- | del | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 102438768 | intergenic variant | C/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 162964207 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 |