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Properties
MORBIDMAP
:NAME MM: {Low density lipoprotein cholesterol level QTL 1}
:MORBID_ID
603776
:NUM 3
:SYM (PCSK9 NARC1 HCHOLA3 FH3 LDLCQ1)
:LOCUS 1p32.3
:OMIM_ID
607786
:SNP HYPERCHOLESTEROLEMIA, FAMILIAL, 3; PCSK9, SER127ARG;
rs28942111
HYPERCHOLESTEROLEMIA, FAMILIAL, 3; PCSK9, PHE216LEU;
rs28942112
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; PCSK9, TYR142TER;
rs67608943
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; PCSK9, CYS679TER;
rs28362286
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; PCSK9, ARG46LEU (
rs11591147);
rs11591147
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; PCSK9, TYR142TER;
rs67608943
:AAUSHIGENE
PROPROTEIN_CONVERTASE_SUBTILISIN_KEXIN_TYPE_9