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: rs727503602
rs727503602
1.000 0.040 2 178604049 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 3 2012 2015
dbSNP: rs727503602
rs727503602
1.000 0.040 2 178604049 stop gained C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.700 0