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: rs1131692278
rs1131692278
0.923 0.071 18 31546441 frameshift variant AAGAG/A in-del 4.0E-06; 3.6E-05 3.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 3 2011 2013
dbSNP: rs1131692278
rs1131692278
0.923 0.071 18 31546441 frameshift variant AAGAG/A in-del 4.0E-06; 3.6E-05 3.2E-05
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
0.700 1 2017 2017
dbSNP: rs1131692278
rs1131692278
0.923 0.071 18 31546441 frameshift variant AAGAG/A in-del 4.0E-06; 3.6E-05 3.2E-05
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB
0.700 0