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 | 1.000 | 0.120 | 7 | 50593490 | intron variant | C/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 158523162 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.120 | 8 | 19793650 | regulatory region variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 14 | 23116809 | downstream gene variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 61963681 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 18151959 | intron variant | T/C | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 10 | 22544224 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 10 | 61964631 | intron variant | A/G | snv | 0.74 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 86720838 | intergenic variant | A/G | snv | 6.6E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.120 | 8 | 95011854 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 3 | 47123960 | missense variant | G/A;C | snv | 5.0E-05; 1.3E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 50509205 | intron variant | G/A;C | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50356265 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 50473045 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 50503190 | intron variant | C/T | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.240 | 9 | 36211617 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.120 | 13 | 38041119 | intron variant | A/C | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
10 | 0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 7 | 106018014 | missense variant | C/A;G;T | snv | 7.2E-02; 2.0E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 19 | 54151243 | intron variant | T/C | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2019 | 2019 |