Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs45586240
rs45586240
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2009 2017