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: rs201278114
rs201278114
MYBPC3
0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04
CUI: C0011071
Disease: Sudden death
Sudden death 		0.700 1.000 1 2016 2016
dbSNP: rs201278114
rs201278114
MYBPC3
0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.700 1.000 1 2016 2016