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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||
|
2 | 0.925 | 0.160 | 3 | 193638064 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
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 | 193659560 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.160 | 3 | 193658904 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 193667256 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 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 | 193648132 | missense variant | C/T | snv | 1.2E-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 | 193647127 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 2000 | 2013 | |||||
|
4 | 0.882 | 0.320 | 3 | 193667168 | splice region variant | TTAG/- | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
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 | |||||
|
1 | 1.000 | 0.160 | 3 | 193648076 | missense variant | G/A | snv | 4.0E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
12 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 3 | 193648133 | missense variant | G/A;T | snv | 3.6E-05; 4.0E-06 | 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 | 193659547 | missense variant | C/G;T | snv | 8.1E-06; 1.8E-04 | 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 |