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: rs387906875
rs387906875
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 3 2011 2015
dbSNP: rs387906875
rs387906875
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
Myopathy, Myofibrillar, Bag3-Related
0.700 1.000 1 2011 2011
dbSNP: rs387906875
rs387906875
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1.000 1 2011 2011