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: rs1057518422
rs1057518422
0.851 0.240 6 149378954 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.010 1.000 1 2018 2018