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.
dbSNP: rs1189469219
rs1189469219
1.000 0.040 7 94603332 frameshift variant T/-;TT delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs121908489
rs121908489
1.000 0.040 7 94628303 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs121908490
rs121908490
1.000 0.040 7 94628288 stop gained G/A snv 1.4E-05
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554345052
rs1554345052
1.000 0.040 7 94603288 splice donor variant AC/- del
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554345162
rs1554345162
1.000 0.040 7 94603382 stop gained G/A snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554345170
rs1554345170
1.000 0.040 7 94603388 stop gained G/A snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554352819
rs1554352819
1.000 0.040 7 94618801 frameshift variant T/- del
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554352906
rs1554352906
1.000 0.040 7 94618861 frameshift variant C/- del
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554352952
rs1554352952
1.000 0.040 7 94618868 frameshift variant AAAG/- delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554353106
rs1554353106
1.000 0.040 7 94618950 frameshift variant G/- delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554355416
rs1554355416
1.000 0.040 7 94623386 stop gained G/T snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1554358727
rs1554358727
1.000 0.040 7 94628292 frameshift variant C/- delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1562811414
rs1562811414
1.000 0.040 7 94603305 stop gained C/T snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs1562853011
rs1562853011
1.000 0.040 7 94623345 inframe insertion -/TATCAAATT delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs863223283
rs863223283
1.000 0.040 7 94600844 frameshift variant GTTTT/- delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs863223284
rs863223284
1.000 0.040 7 94600798 frameshift variant -/A delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs863223285
rs863223285
1.000 0.040 7 94618800 frameshift variant CT/- del
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 0
dbSNP: rs121908491
rs121908491
1.000 0.040 7 94618833 missense variant A/C snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.800 1.000 11 2001 2011
dbSNP: rs372686312
rs372686312
1.000 0.040 7 94603303 missense variant C/T snv 4.0E-06
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 1.000 10 2001 2011
dbSNP: rs1064794321
rs1064794321
1.000 0.040 7 94618869 missense variant A/G snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.800 1.000 4 2000 2011
dbSNP: rs121908492
rs121908492
1.000 0.040 7 94598914 stop gained G/A snv 7.0E-06
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 1.000 3 2005 2013
dbSNP: rs794727794
rs794727794
1.000 0.040 7 94603343 frameshift variant AT/- del 7.0E-06
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs1554345077
rs1554345077
1.000 0.040 7 94603320 frameshift variant T/- delins
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1562806242
rs1562806242
1.000 0.040 7 94600842 stop gained G/A snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs398123812
rs398123812
1.000 0.040 7 94603406 stop gained G/A snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.700 1.000 1 2008 2008