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 | 0.925 | 0.160 | 1 | 12007062 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.160 | 3 | 193637280 | missense variant | G/A | snv | 0.710 | 1.000 | 21 | 2000 | 2013 | |||||
|
9 | 0.827 | 0.240 | 3 | 193643996 | missense variant | G/A;C | snv | 0.710 | 1.000 | 21 | 2000 | 2013 | |||||
|
3 | 0.882 | 0.160 | 3 | 193614929 | missense variant | A/G | snv | 4.0E-04 | 1.1E-03 | 0.700 | 1.000 | 20 | 2000 | 2013 | |||
|
2 | 0.925 | 0.160 | 3 | 193637980 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 2000 | 2013 | |||||
|
2 | 0.925 | 0.160 | 3 | 193643978 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.160 | 3 | 193614995 | missense variant | A/G;T | snv | 2.0E-05 | 0.700 | 1.000 | 20 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 193643038 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 20 | 2000 | 2013 | ||||
|
2 | 0.925 | 0.160 | 3 | 193638064 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.160 | 3 | 193637313 | intron variant | T/A;C | snv | 0.42 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 3 | 193635422 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 3 | 193637285 | splice region variant | T/A;C | snv | 0.87 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 3 | 193635443 | missense variant | G/A | snv | 2.0E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | 3 | 193638010 | missense variant | A/G | snv | 1.6E-05 | 4.2E-05 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 3 | 193635467 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 3 | 193642975 | frameshift variant | -/TT | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 3 | 193643434 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 3 | 193643625 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 3 | 193614803 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.240 | 3 | 193598916 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 3 | 193642978 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 3 | 193614974 | missense variant | C/G;T | snv | 4.0E-06; 1.4E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 193643419 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 193637286 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 0 |