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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.821 | 0.214 | 12 | 112207597 | intron variant | G/A | snp | 8.6E-03 | 0.800 | 3 | 2011 | 2017 | |||||
|
61 | 0.593 | 0.464 | 12 | 111803962 | missense variant | G/A | snp | 1.9E-02 | 1.3E-02 | 0.800 | 3 | 2013 | 2017 | ||||
|
2 | 12 | 110895818 | intron variant | T/C | snp | 0.39 | 0.800 | 2 | 2011 | 2017 | |||||||
|
14 | 0.801 | 0.214 | 12 | 110976657 | intergenic variant | T/G | snp | 1.1E-02 | 0.800 | 2 | 2011 | 2017 | |||||
|
50 | 0.622 | 0.393 | 4 | 99318162 | missense variant | T/C,G | snp | 0.90 | 0.94 | 0.800 | 2 | 2013 | 2017 | ||||
|
2 | 12 | 112971371 | 3 prime UTR variant | G/A | snp | 8.0E-03 | 0.800 | 2 | 2011 | 2017 | |||||||
|
3 | 0.923 | 0.071 | 3 | 133775510 | missense variant | C/T | snp | 0.16 | 0.13 | 0.800 | 1 | 2012 | 2012 | ||||
|
1 | 3 | 133818223 | intron variant | A/G | snp | 0.28 | 0.800 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 133756968 | missense variant | G/A | snp | 5.2E-02 | 5.8E-02 | 0.800 | 1 | 2012 | 2012 | ||||||
|
175 | 0.463 | 0.714 | 6 | 26092913 | missense variant | G/A | snp | 3.3E-02 | 3.8E-02 | 0.800 | 1 | 2012 | 2012 | ||||
|
1 | 1 | 63661797 | regulatory region variant | C/G | snp | 0.19 | 0.800 | 1 | 2012 | 2012 | |||||||
|
12 | 0.801 | 0.107 | 3 | 133765185 | intron variant | G/A | snp | 0.31 | 0.800 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 8229264 | intron variant | C/A | snp | 0.55 | 0.800 | 1 | 2013 | 2013 | |||||||
|
3 | 0.923 | 0.071 | 7 | 70341037 | intron variant | T/A | snp | 0.33 | 0.800 | 1 | 2011 | 2011 | |||||
|
1 | 7 | 118938630 | intergenic variant | A/G,T | snp | 0.87 | 0.700 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 118944637 | intergenic variant | G/A | snp | 0.87 | 0.700 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 133566686 | intergenic variant | G/T | snp | 0.57 | 0.700 | 1 | 2012 | 2012 | |||||||
|
3 | 10 | 59620724 | intron variant | C/A,G | snp | 9.6E-05; 8.2E-02 | 0.700 | 1 | 2013 | 2013 | |||||||
|
2 | 12 | 20446178 | intron variant | A/G | snp | 0.31 | 0.700 | 1 | 2013 | 2013 | |||||||
|
1 | 3 | 133543963 | intergenic variant | T/A,G | snp | 0.60 | 0.700 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 133623144 | missense variant | T/C,G | snp | 0.29; 4.0E-06 | 0.22 | 0.700 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 133720340 | intron variant | T/C | snp | 0.34 | 0.700 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 118968071 | intergenic variant | C/G,T | snp | 0.87 | 0.700 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 118968349 | intergenic variant | T/A,C | snp | 0.87 | 0.700 | 1 | 2012 | 2012 | |||||||
|
3 | 0.923 | 0.107 | 12 | 111730205 | intron variant | G/A | snp | 1.4E-02 | 0.700 | 1 | 2013 | 2013 |