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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
22 | 19996754 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
18 | 23141009 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||||||
|
14 | 102573750 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
9 | 4814948 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1 | 205268009 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
5 | 76751114 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 123121029 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
9 | 4834394 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
8 | 143931393 | intron variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
5 | 88856300 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1.000 | 6 | 31354590 | non coding transcript exon variant | T/G | snv | 7.7E-02 | 2.3E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
19 | 16074749 | non coding transcript exon variant | G/A | snv | 3.9E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
1.000 | 0.040 | 11 | 119229196 | intron variant | G/C | snv | 6.0E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
7 | 123771169 | intergenic variant | A/C | snv | 6.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
12 | 121927677 | intron variant | C/T | snv | 7.3E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
16 | 23754453 | non coding transcript exon variant | G/A | snv | 7.7E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 43460740 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.851 | 0.280 | 17 | 4933086 | missense variant | C/T | snv | 9.8E-02 | 0.13 |
|
0.800 | 1.000 | 1 | 2010 | 2011 | |||||||
|
14 | 93034681 | intron variant | A/G | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 134060541 | intron variant | G/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 202856 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||||
|
14 | 68054189 | intron variant | G/A | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |