| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 6 | 31402590 | non coding transcript exon variant | G/A | snv | 5.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 31236917 | intergenic variant | C/G | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 31880663 | non coding transcript exon variant | A/G;T | snv | 8.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 31121931 | intron variant | A/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 29097215 | upstream gene variant | C/A;T | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 30010575 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 30890477 | non coding transcript exon variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 6 | 32115398 | 3 prime UTR variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 31383435 | upstream gene variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 32622251 | regulatory region variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 31360768 | upstream gene variant | A/T | snv | 9.4E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 29809899 | downstream gene variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.720 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 8 | 27354393 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 8 | 69925162 | upstream gene variant | C/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 9 | 75984217 | intron variant | C/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 14009457 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 8548569 | non coding transcript exon variant | G/T | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 14 | 20428086 | 3 prime UTR variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 16 | 50711057 | missense variant | C/G;T | snv | 4.8E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 17 | 42570011 | missense variant | A/G | snv | 0.28 | 0.25 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
1.000 | 0.080 | 18 | 24913920 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |