Source: CLINVAR

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.
dbSNP: rs150974575
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 9 2000 2013
dbSNP: rs727504448
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 5 2000 2012
dbSNP: rs121909525
rs121909525
ACTA1
1.000 0.080 1 229431994 missense variant C/A;G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 6 2003 2015
dbSNP: rs367543052
rs367543052
MYH7 ; MHRT
0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 4 2003 2012
dbSNP: rs121908334
rs121908334
LDB3
0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 8 2005 2017
dbSNP: rs267607592
rs267607592
LMNA
1.000 0.080 1 156137233 splice donor variant G/A snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 2 2005 2009
dbSNP: rs193922839
rs193922839
RYR1
0.925 0.120 19 38534775 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 5 2007 2013
dbSNP: rs57508089
rs57508089
LMNA
1.000 0.080 1 156136110 synonymous variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 4 2007 2017
dbSNP: rs193922879
rs193922879
RYR1
1.000 0.080 19 38580382 missense variant G/A snv 7.6E-05 1.1E-04
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 8 2008 2015
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 4 2009 2015
dbSNP: rs200563280
rs200563280
RYR1
0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 4 2010 2014
dbSNP: rs267607495
rs267607495
DES
2 219418497 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 1 2011 2011
dbSNP: rs397517481
rs397517481
TTN ; TTN-AS1
1.000 0.040 2 178734327 splice donor variant C/A;T snv 4.3E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 1 2013 2013