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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 20 | 59176062 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 4 | 2011 | 2018 | ||||||
|
12 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||
|
6 | 1.000 | 0.040 | 10 | 61764833 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 3 | 2009 | 2018 | ||||
|
5 | 19 | 11416089 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 3 | 2016 | 2017 | |||||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||
|
7 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.700 | 1.000 | 3 | 2017 | 2018 | |||
|
6 | 20 | 10985350 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
4 | 4 | 80236549 | regulatory region variant | T/C | snv | 0.27 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 2 | 26709163 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||
|
4 | 1 | 112673921 | intron variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||||
|
5 | 12 | 115115073 | intergenic variant | G/C | snv | 0.40 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
2 | 19 | 7252745 | intron variant | C/T | snv | 9.7E-02 | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||
|
6 | 1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 | 0.700 | 1.000 | 3 | 2009 | 2018 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 3 | 2009 | 2019 | ||||
|
2 | 2 | 96686103 | missense variant | A/G;T | snv | 0.41 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
4 | 11 | 13272358 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||
|
6 | 10 | 94136183 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 3 | 2011 | 2017 | ||||||
|
4 | 0.925 | 0.160 | 3 | 41871159 | intron variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
2 | 5 | 115054424 | regulatory region variant | C/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
2 | 2 | 217804009 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||||
|
4 | 1 | 112501706 | intron variant | G/T | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 |