| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | X | 40074459 | missense variant | C/A;T | snv | 6.1E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | X | 130013883 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 22 | 38984136 | missense variant | C/A | snv | 4.1E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
1.000 | 0.040 | 22 | 45186979 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 22 | 22155065 | intron variant | G/A | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29853358 | intergenic variant | T/A;C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 27638385 | regulatory region variant | C/T | snv | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 48447383 | upstream gene variant | G/A | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 47783584 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 25787450 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 30005238 | non coding transcript exon variant | A/G | snv | 9.4E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 25788238 | intron variant | T/C | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 17523132 | intron variant | G/A | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 45158316 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 22 | 45170821 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 45171031 | 5 prime UTR variant | C/A;G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 45171699 | non coding transcript exon variant | C/A | snv | 0.21 | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 22 | 45172630 | intron variant | G/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 45173105 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 27638589 | regulatory region variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 26135950 | intergenic variant | A/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 26147321 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 22 | 46610615 | intron variant | G/A | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 46610350 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |