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 | 32470871 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.120 | 6 | 32186508 | non coding transcript exon variant | A/G | snv | 0.21 | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 32445373 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32445317 | downstream gene variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 6 | 32399738 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.120 | 6 | 31633043 | intron variant | A/G;T | snv | 0.15 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 32405186 | synonymous variant | G/A | snv | 0.12 | 0.10 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 31630712 | synonymous variant | A/G | snv | 0.15 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 31641495 | non coding transcript exon variant | T/C | snv | 0.15 | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 32398644 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 6 | 32444611 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.120 | 6 | 32474484 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 6 | 32444762 | 3 prime UTR variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32452402 | regulatory region variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 6 | 32443258 | splice acceptor variant | A/C;T | snv | 0.61; 8.1E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 6 | 31672202 | missense variant | C/T | snv | 7.4E-02 | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 32442939 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 6 | 32399827 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 6 | 32593082 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.200 | 6 | 31651799 | 5 prime UTR variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 1.000 | 0.120 | 6 | 31645962 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 |