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 | 1.000 | 2 | 227277511 | missense variant | G/A | snv | 1.1E-04 | 1.5E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 19 | 41320115 | intron variant | A/C;G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 224359374 | regulatory region variant | C/T | snv | 1.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
20 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
4 | X | 108595507 | coding sequence variant | AAGGTGACA/- | delins | 0.700 | 0 | ||||||||||
|
2 | X | 108695350 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 2 | 227108597 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | X | 108615026 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.040 | 2 | 227010441 | missense variant | C/T | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.040 | 2 | 227059468 | missense variant | C/G | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 1 | 16049884 | stop gained | -/AATA | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 9 | 30866810 | intergenic variant | A/G | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 1.000 | 0.080 | 1 | 230701434 | upstream gene variant | C/T | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1 | 161677034 | non coding transcript exon variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.120 | 19 | 6692971 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.160 | 2 | 227022135 | stop gained | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 2 | 227284345 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1 | 8 | 90042763 | missense variant | G/A | snv | 2.2E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1 | 230316103 | 3 prime UTR variant | T/C | snv | 5.1E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 5 | 157976402 | downstream gene variant | A/G | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.120 | 21 | 42403997 | missense variant | A/G | snv | 0.55 | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.120 | 21 | 45989626 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 161723213 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 |