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: rs367785431
rs367785431
1.000 0.080 1 201359221 missense variant G/A;T snv 2.5E-05 7.0E-06
Cardiomyopathy, Familial Hypertrophic, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 14 1994 2012