Source: CLINVAR ×
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: rs746118995
rs746118995
LDLR
5 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 8 1997 2017