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
0.923 0.071 10 119670037 stop gained C/T snp 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 4 2011 2016
dbSNP: rs387906875
rs387906875
0.923 0.071 10 119670037 stop gained C/T snp 8.0E-06
Myopathy, Myofibrillar, Bag3-Related
0.700 2 2011 2017
dbSNP: rs387906875
rs387906875
0.923 0.071 10 119670037 stop gained C/T snp 8.0E-06
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 2 2011 2017