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 | 1.000 | 22 | 43999571 | missense variant | T/A;C | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43940430 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43930820 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 16 | 56960280 | upstream gene variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 16 | 56968492 | intron variant | C/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43953356 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43936063 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43932163 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 22 | 43934248 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 22 | 43937599 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 22 | 43989714 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43939864 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 22 | 43933198 | intron variant | C/A;T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 2 | 28778825 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 22 | 43982929 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43993634 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43999509 | intron variant | A/C | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 22 | 43995354 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43945042 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43983685 | intron variant | G/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43998139 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 22 | 43992537 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 |