EBP, EBP cholestenol delta-isomerase, 10682
N. diseases: 243; N. variants: 42
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 | 48524009 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 6 | 1999 | 2015 | ||||||||
|
1.000 | 0.040 | X | 48527256 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 6 | 1999 | 2015 | ||||||||
|
1.000 | 0.040 | X | 48527202 | stop gained | G/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48528287 | stop gained | C/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48528351 | stop gained | G/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48523858 | stop gained | G/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48523958 | stop gained | C/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48528275 | missense variant | C/T | snv | 6.4E-04 | 6.4E-04 |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | X | 48527026 | splice donor variant | G/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48527206 | frameshift variant | A/- | del |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48528350 | stop gained | -/A | ins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | X | 48523912 | missense variant | G/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48523953 | stop gained | G/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48523975 | missense variant | G/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48523985 | missense variant | T/C | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48523989 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48524062 | frameshift variant | TCTCA/- | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48524070 | missense variant | T/C | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48524074 | splice donor variant | T/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48526990 | missense variant | G/T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48526991 | stop gained | A/C;T | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48526997 | missense variant | T/C | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48526998 | missense variant | A/G | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48527001 | missense variant | C/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 48527007 | missense variant | G/A;C | snv | 5.4E-06 |
|
Musculoskeletal Diseases | 0.700 | 0 |