SGCE, sarcoglycan epsilon, 8910
N. diseases: 68; N. variants: 27
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 | 7 | 94603332 | frameshift variant | T/-;TT | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94628303 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 7 | 94628288 | stop gained | G/A | snv | 1.4E-05 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 7 | 94603288 | splice donor variant | AC/- | del |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94603382 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94603388 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94618801 | frameshift variant | T/- | del |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94618861 | frameshift variant | C/- | del |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94618868 | frameshift variant | AAAG/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94618950 | frameshift variant | G/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94623386 | stop gained | G/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94628292 | frameshift variant | C/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94603305 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94623345 | inframe insertion | -/TATCAAATT | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94600844 | frameshift variant | GTTTT/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94600798 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94618800 | frameshift variant | CT/- | del |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 94603320 | frameshift variant | T/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 7 | 94603406 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 7 | 94600842 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 94618833 | missense variant | A/C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 11 | 2001 | 2011 | ||||||||
|
1.000 | 0.040 | 7 | 94603303 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 10 | 2001 | 2011 | |||||||
|
1.000 | 0.040 | 7 | 94618869 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 4 | 2000 | 2011 | ||||||||
|
1.000 | 0.040 | 7 | 94603343 | frameshift variant | AT/- | del | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.040 | 7 | 94598914 | stop gained | G/A | snv | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2005 | 2013 |