| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 85977731 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 58571651 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 12504579 | intron variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 143577757 | intron variant | A/G | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||||
|
8 | 129611859 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
11 | 65889093 | upstream gene variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 30090837 | intron variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 73991991 | upstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
10 | 58238165 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
5 | 130681594 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
14 | 75234518 | downstream gene variant | C/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 32788476 | intron variant | T/G | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 32137845 | intron variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 24896016 | intron variant | C/T | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 87414396 | intergenic variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 92677094 | intergenic variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
13 | 99304368 | intron variant | T/C | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.773 | 3 | 2006 | 2020 | |||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 |
|
0.720 | 1.000 | 1 | 2006 | 2010 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2008 | 2012 | |||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |