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: rs587782927
rs587782927
DSP
1.000 0.036 6 7574086 frameshift variant GAG/G in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs587782927
rs587782927
DSP
1.000 0.036 6 7574086 frameshift variant GAG/G in-del
continuous electrocardiogram ventricular tachycardia
0.700 0
dbSNP: rs587782927
rs587782927
DSP
1.000 0.036 6 7574086 frameshift variant GAG/G in-del
Left ventricular noncompaction cardiomyopathy
0.700 0