Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 19 | 44907777 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
19 | 44909032 | missense variant | C/A;T | snv | 6.9E-06; 4.2E-05 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 19 | 44908979 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
19 | 44909171 | missense variant | G/A | snv | 4.5E-06 |
|
0.700 | 0 | |||||||||||||
|
19 | 44908757 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.080 | 19 | 44907807 | missense variant | G/A | snv | 1.2E-04 | 4.8E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 |
|
0.700 | 0 | |||||||||||
|
19 | 44907894 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||||
|
19 | 44908751 | missense variant | G/A;C;T | snv | 3.2E-05 |
|
0.700 | 0 | |||||||||||||
|
19 | 44909236 | missense variant | A/C | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 44908531 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.700 | 0 | |||||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.800 | 0 | ||||||||||
|
1.000 | 0.160 | 19 | 44908792 | inframe deletion | TCC/- | delins | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 0 | ||||||||||
|
0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1988 | 1988 | ||||||||
|
0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1988 | 1988 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.010 | 1.000 | 1 | 1988 | 1988 | |||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.010 | 1.000 | 1 | 1988 | 1988 | |||||||
|
0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 |
|
0.010 | 1.000 | 1 | 1992 | 1992 | ||||||||
|
0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 |
|
0.010 | < 0.001 | 1 | 1993 | 1993 | ||||||||
|
0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 |
|
0.010 | < 0.001 | 1 | 1993 | 1993 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.730 | 1.000 | 3 | 1988 | 1994 | |||||||
|
0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||
|
0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 |
|
0.010 | 1.000 | 1 | 1994 | 1994 |