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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.160 | 10 | 113029056 | intron variant | T/C | snv | 0.27 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 15 | 62040781 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 3 | 123375604 | intron variant | T/C | snv | 0.76 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 2 | 43020088 | regulatory region variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 176189453 | missense variant | G/C;T | snv | 2.4E-03; 4.1E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 15 | 62055686 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 9889451 | missense variant | G/A;C | snv | 0.22; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.120 | 22 | 32049959 | missense variant | A/G | snv | 4.8E-02 | 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.120 | 22 | 32091713 | missense variant | G/A | snv | 4.9E-02 | 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1 | 176670971 | missense variant | G/T | snv | 1.9E-04 | 1.8E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 15 | 61940181 | intron variant | C/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 11 | 73309801 | missense variant | G/A;C;T | snv | 8.1E-06; 8.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 10 | 69223185 | non coding transcript exon variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
9 | 0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 11 | 14244067 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 13 | 75324027 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 17 | 7078084 | missense variant | G/A;T | snv | 4.0E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 |