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: rs727503167
rs727503167
MYBPC3
0.925 0.080 11 47332123 missense variant C/T snv 6.8E-05 1.4E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 5 2003 2017
dbSNP: rs727503167
rs727503167
MYBPC3
0.925 0.080 11 47332123 missense variant C/T snv 6.8E-05 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2003 2009