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: rs727503192
rs727503192
MYBPC3
0.925 0.080 11 47339718 frameshift variant AG/C;T delins 4.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2010 2017
dbSNP: rs727503192
rs727503192
MYBPC3
0.925 0.080 11 47339718 frameshift variant AG/C;T delins 4.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0