DMD, dystrophin, 1756
N. diseases: 484; N. variants: 345
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | X | 31932180 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 31875217 | frameshift variant | GT/- | del |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32454796 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32484931 | stop gained | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 31875331 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32849753 | missense variant | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 32545310 | stop gained | G/A;C | snv | 1.1E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | X | 32844794 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32699219 | stop gained | G/A;C | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | X | 32699195 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 32595870 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32565742 | stop gained | C/G;T | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | X | 32501827 | stop gained | T/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32501818 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 32468539 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32411772 | stop gained | G/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 32389605 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32342123 | stop gained | G/A | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | X | 32216981 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 31929718 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 31774100 | stop gained | C/A;G | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 31323625 | stop gained | G/A;T | snv | 1.1E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | X | 32697995 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32310214 | stop gained | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32468640 | stop gained | G/A;T | snv | 1.4E-04 |
|
Cardiovascular Diseases | 0.700 | 0 |