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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.800 | 1.000 | 4 | 2009 | 2012 | ||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
7 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
8 | 1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 1.000 | 0.040 | 22 | 45968281 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
3 | 1.000 | 0.040 | 16 | 30903305 | 3 prime UTR variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 6 | 25454787 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 5 | 4029676 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.040 | 16 | 190281 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 1 | 93350843 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 6 | 135125688 | intergenic variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 57387153 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.120 | 7 | 50368079 | synonymous variant | T/G | snv | 0.35 | 0.32 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | 1 | 155419060 | intron variant | A/T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 1.000 | 0.040 | 4 | 76490987 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 1.000 | 0.080 | 2 | 164672366 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 7 | 151058086 | intron variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 52594040 | intron variant | C/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 19 | 43769364 | synonymous variant | T/C | snv | 0.24 | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.040 | 3 | 52799789 | missense variant | C/A | snv | 0.48 | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 |