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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.710 | 1.000 | 2 | 2016 | 2019 | |||
|
6 | 0.882 | 0.080 | 12 | 124800125 | missense variant | G/A | snv | 9.9E-04 | 6.7E-04 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 5 | 88477501 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.080 | 2 | 65049318 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 8 | 26542619 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 8 | 58399138 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 78796097 | 3 prime UTR variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 14735055 | 3 prime UTR variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 4868325 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 18156159 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 101803258 | intron variant | C/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 100794914 | intron variant | C/T | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 11 | 47340914 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 94254865 | intron variant | C/G | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 9 | 109998608 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 62182180 | downstream gene variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 74261866 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 16239678 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 |