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 | 8 | 32542144 | intron variant | T/C | snv | 0.59 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 1 | 23365736 | intron variant | A/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 8 | 23877534 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 9 | 34130437 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 20 | 1352416 | intron variant | C/T | snv | 6.7E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 5 | 3595864 | 5 prime UTR variant | G/A | snv | 0.62 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 15581747 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 10 | 102816113 | 3 prime UTR variant | A/G | snv | 0.15 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 1 | 214571550 | regulatory region variant | T/C | snv | 0.81 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 57398050 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 2 | 15652394 | intergenic variant | T/C | snv | 0.48 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 7 | 77922810 | missense variant | G/A;T | snv | 0.61 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 6 | 131560938 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 4 | 76476862 | intron variant | A/G | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 34509720 | regulatory region variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 86234980 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 10974358 | intron variant | T/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 11559984 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 32578102 | intron variant | C/G | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 68541379 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 136218015 | intron variant | T/C;G | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 80411775 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 243324884 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 15586492 | non coding transcript exon variant | G/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 18497405 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 |