Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 3 | 34149739 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 1 | 238128048 | intergenic variant | C/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 5 | 96700607 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 0.120 | 13 | 38041119 | intron variant | A/C | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.800 | 1.000 | 3 | 2011 | 2018 | |||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 10 | 112189906 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 36922355 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 19 | 40827379 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 4 | 76495474 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 7 | 28139639 | intron variant | C/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 232655544 | intron variant | A/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 5 | 56792072 | intergenic variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 9 | 6665010 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 33893066 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 0.851 | 0.200 | 7 | 87450090 | splice region variant | T/A | snv | 0.21 | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 2 | 169013785 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 10 | 96700824 | non coding transcript exon variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 4 | 145900258 | intron variant | C/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 9 | 114377802 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |