RS121908029 LDLR

Health Risk Chr 19:11105587 snv stop gained
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What This Variant Does
"aka c.682G&gt
Associated Conditions
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Homozygous familial hypercholesterolemia
Cardiovascular phenotype
Dyslipidemia
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Homozygous familial hypercholesterolemia
Cardiovascular phenotype
Hypercholesterolemia
familial
Population Frequencies
gnomAD ALL
100%
Other Variants in LDLR
rs121908024 rs121908025 rs121908026 rs28942082 rs28942083 rs121908028 rs121908030 rs28942078 rs28942079 rs28942080
Ask Dr. Hemsworth about this variant