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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
11 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 105176946 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 17 | 36071135 | 3 prime UTR variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.776 | 0.200 | 17 | 51152947 | upstream gene variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.120 | 17 | 7502618 | non coding transcript exon variant | C/T | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.925 | 0.120 | 9 | 35674056 | missense variant | G/A | snv | 0.37 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.120 | 22 | 28741956 | 5 prime UTR variant | G/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.752 | 0.240 | 17 | 51153539 | 5 prime UTR variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 19 | 29814988 | intron variant | G/T | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.120 | 17 | 51154651 | intron variant | G/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 17 | 51153130 | upstream gene variant | A/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 51153191 | upstream gene variant | T/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.240 | 17 | 47311220 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |