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: rs121908336
rs121908336
1.000 0.040 10 86706669 missense variant C/G;T snv 4.0E-06; 2.8E-04
CARDIOMYOPATHY, DILATED, 1C (disorder)
0.800 1.000 0 2003 2004
dbSNP: rs121908337
rs121908337
1.000 0.040 10 86681731 missense variant C/T snv 1.6E-05 7.0E-06
CARDIOMYOPATHY, DILATED, 1C (disorder)
0.800 1.000 0 2003 2004
dbSNP: rs45487699
rs45487699
1.000 0.040 10 86681680 missense variant C/T snv 6.5E-04 5.0E-04
CARDIOMYOPATHY, DILATED, 1C (disorder)
0.800 0
dbSNP: rs121908334
rs121908334
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: rs121908333
rs121908333
1.000 10 86687163 missense variant G/A snv
CUI: C4721886
Disease: MYOPATHY, MYOFIBRILLAR, 4
MYOPATHY, MYOFIBRILLAR, 4
0.700 0
dbSNP: rs121908334
rs121908334
0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
0.700 0
dbSNP: rs121908334
rs121908334
0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06
CUI: C4721886
Disease: MYOPATHY, MYOFIBRILLAR, 4
MYOPATHY, MYOFIBRILLAR, 4
0.700 0
dbSNP: rs775180716
rs775180716
1.000 0.080 10 86692544 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
0.700 0