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: rs730880717
rs730880717
MYBPC3
11 47335038 splice donor variant TCACGCAGGATCTCCT/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0