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: rs1199713333
rs1199713333
0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs751224055
rs751224055
0.925 0.040 12 2674574 missense variant C/A;T snv 5.2E-06; 5.2E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 1.000 1 2018 2018