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: rs267607495
rs267607495
DES
2 219418497 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2011 2011
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