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: rs61046466
rs61046466
1.000 0.120 1 156114934 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 1999 2000
dbSNP: rs61046466
rs61046466
1.000 0.120 1 156114934 stop gained C/T snv
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 0