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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 6 | 35549613 | downstream gene variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 64317826 | 5 prime UTR variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 17 | 83136753 | intron variant | C/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 87874699 | regulatory region variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 5 | 151081488 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 22 | 17116671 | 3 prime UTR variant | G/A | snv | 4.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 42100731 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 114196008 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 151523308 | intron variant | T/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.807 | 0.120 | 13 | 39781776 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 0.040 | 6 | 577820 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 6 | 11720988 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 92960610 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1 | 65445924 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 102552390 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 136772239 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 6 | 135085045 | intron variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 6 | 109286353 | non coding transcript exon variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 142904708 | intron variant | T/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 42017698 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 6 | 135102071 | intron variant | T/C | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 12141986 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 159364501 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 87071006 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |