Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72658867
rs72658867
LDLR
1 1.000 0.040 19 11120527 splice region variant G/A snv 7.4E-03 7.5E-03 0.010 1.000 1 2015 2015