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: rs727505109
rs727505109
1.000 10 119676621 frameshift variant CC/C in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 3 2011 2013
dbSNP: rs727505109
rs727505109
1.000 10 119676621 frameshift variant CC/C in-del
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 1 2017 2017