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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2012 | 2016 | |||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 17403055 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.800 | 1.000 | 2 | 2012 | 2017 | |||
|
2 | 1.000 | 0.040 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 186906327 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 11 | 58571651 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 8 | 125523895 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 0.925 | 0.040 | 10 | 35006503 | downstream gene variant | C/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 1.000 | 0.040 | 12 | 119709120 | intron variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | X | 124365786 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 1.000 | 0.040 | 10 | 124750812 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 10 | 92742487 | TF binding site variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2017 | |||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.773 | 22 | 2006 | 2020 | |||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 0.800 | 1.000 | 2 | 2012 | 2015 |