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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 67405379 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 2 | 219517978 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 7 | 15466382 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 20 | 63741353 | non coding transcript exon variant | G/A;C;T | snv | 0.69; 3.2E-05 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 13 | 79893100 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 2 | 42016710 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 18 | 8801353 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 2 | 18106357 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 12 | 2799164 | missense variant | C/A | snv | 1.8E-02 | 2.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
2 | 17 | 81995068 | synonymous variant | C/G;T | snv | 7.2E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 17 | 30883577 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 17 | 70980274 | intergenic variant | C/T | snv | 0.81 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||||
|
2 | 9 | 18013735 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 2 | 156159745 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 16 | 50155018 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 1.000 | 0.120 | 8 | 144280310 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 12 | 28435309 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 13 | 71073456 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 17 | 39348680 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 150575271 | 3 prime UTR variant | G/A | snv | 0.48 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 5 | 33334206 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
2 | 6 | 44479861 | intergenic variant | G/A | snv | 0.64 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 6 | 34221115 | downstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 93801114 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 4 | 173660916 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |