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: rs141754300
rs141754300
0.925 0.040 1 201364349 missense variant C/A snv 8.0E-06
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy
0.010 1.000 1 2016 2016