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 0.107 1 156114934 stop gained C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 3 1999 2013
dbSNP: rs61046466
rs61046466
1.000 0.107 1 156114934 stop gained C/T snp
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 2 1993 1999