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: rs5182
rs5182
0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 < 0.001 1 1994 1994