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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 4 | 38783057 | upstream gene variant | C/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 38773164 | synonymous variant | A/G | snv | 0.25 | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 4 | 38773419 | synonymous variant | A/G | snv | 0.26 | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 4 | 38774559 | synonymous variant | C/A;T | snv | 0.25; 4.3E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 4 | 38783103 | upstream gene variant | -/A | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.040 | 4 | 38778850 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 4 | 38777282 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 4 | 38776582 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 4 | 38782227 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 4 | 38782646 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.120 | 4 | 38773268 | missense variant | T/A;C;G | snv | 0.17 | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 4 | 38775850 | 5 prime UTR variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 38772195 | downstream gene variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 38780600 | intron variant | G/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 38780799 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 38777473 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 |