| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 9 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 20381010 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 7 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 30727543 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 7 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 |
|
0.700 | 1.000 | 6 | 2016 | 2019 | ||||||||
|
0.882 | 0.200 | 6 | 43838872 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 6 | 2016 | 2019 | |||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 5 | 2017 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 113209498 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2018 | 2019 | |||||||||
|
1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 5 | 2018 | 2019 | ||||||||
|
20 | 54115823 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | ||||||||||
|
1.000 | 0.080 | 6 | 160247357 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||
|
1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||
|
1.000 | 0.080 | 10 | 853131 | intron variant | A/T | snv | 0.12 |
|
0.700 | 1.000 | 5 | 2017 | 2019 | ||||||||
|
0.925 | 0.120 | 18 | 79396537 | intron variant | C/G | snv | 0.39 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 15 | 76012162 | 5 prime UTR variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
12 | 75877403 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 4 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 18 | 26813249 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2018 | 2019 | |||||||||
|
1.000 | 0.080 | 9 | 68817258 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 4 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 150968149 | missense variant | T/A;G | snv | 4.0E-06; 0.15 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.925 | 0.120 | 5 | 177386403 | intron variant | C/T | snv | 0.23 | 0.20 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | |||||||
|
7 | 155871992 | intergenic variant | C/A;T | snv | 0.40 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||||
|
7 | 151717243 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
0.925 | 0.120 | 10 | 50885488 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
5 | 68443447 | regulatory region variant | G/A;T | snv | 8.7E-02 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
1 | 112716059 | non coding transcript exon variant | T/C | snv | 8.9E-02 |
|
0.700 | 1.000 | 3 | 2019 | 2019 | ||||||||||
|
16 | 51721080 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 3 | 2018 | 2019 |