RS139617694 LDLR

Health Risk Chr 19:11113533 snv splice acceptor variant
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What This Variant Does
"aka c.1359-1G&gt
Associated Conditions
Hypercholesterolemia
familial
1
Homozygous familial hypercholesterolemia
Familial hypercholesterolemia
Cardiovascular phenotype
See cases
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Hypercholesterolemia
familial
1
Homozygous familial hypercholesterolemia
Population Frequencies
gnomAD ALL
100%
Other Variants in LDLR
rs121908024 rs121908025 rs121908026 rs28942082 rs28942083 rs121908028 rs121908029 rs121908030 rs28942078 rs28942079
Ask Dr. Hemsworth about this variant