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 | 161571067 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 6 | 30049294 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 8 | 125467073 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 18 | 49634444 | intergenic variant | A/G | snv | 0.53 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 55650832 | intron variant | C/T | snv | 2.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
22 | 0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.882 | 0.080 | 2 | 43847292 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 19 | 11077477 | intron variant | A/C | snv | 0.11 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 1.000 | 0.080 | 20 | 45906012 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 |