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: rs371488302
rs371488302
MYBPC3
0.925 0.080 11 47337792 missense variant C/T snv 4.0E-05 3.5E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 0
dbSNP: rs371488302
rs371488302
MYBPC3
0.925 0.080 11 47337792 missense variant C/T snv 4.0E-05 3.5E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0