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: rs1554108287
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1554108287
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0
dbSNP: rs1554108287
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0