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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 7 | 102205168 | missense variant | C/T | snv | 8.6E-04 | 3.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.040 | 20 | 10303770 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 8 | 10307685 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 12 | 103218955 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 103390184 | intron variant | T/A;C | snv | 4.3E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 10 | 105701367 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 11 | 105762027 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 1 | 106295917 | intergenic variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 8 | 10964921 | intron variant | G/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 110479338 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 7 | 111871082 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 6 | 1128802 | intergenic variant | G/T | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.040 | 7 | 114083210 | upstream gene variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 3 | 114997018 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 9 | 115094539 | intron variant | A/T | snv | 2.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 9 | 11557797 | intergenic variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 115851928 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.080 | 12 | 116889787 | regulatory region variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 7 | 117883655 | non coding transcript exon variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 |