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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.800 | 1.000 | 4 | 2010 | 2018 | |||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
2 | 10 | 9286688 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 6 | 156807123 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 17 | 1730810 | synonymous variant | C/G;T | snv | 4.0E-06; 0.12 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 2 | 233356202 | intron variant | C/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.080 | 20 | 54157888 | intron variant | A/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 7 | 65806210 | downstream gene variant | C/T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 13 | 41984940 | downstream gene variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 3007859 | non coding transcript exon variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 3 | 122258079 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 3 | 122414118 | 3 prime UTR variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.080 | 3 | 122258435 | intron variant | G/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 3 | 122294507 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 10 | 49244632 | intergenic variant | T/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 89702020 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 122226991 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 3 | 122560202 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122405001 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 5 | 23301799 | downstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 122289706 | 3 prime UTR variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 10 | 9254687 | regulatory region variant | G/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 50692447 | downstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 122307242 | regulatory region variant | C/G | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |