RS121908027 LDLR
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What This Variant Does
"rs121908027, also known as 652delGGT, G197del, among other terms, is a mutation in the LDLR gene on ...
Associated Conditions
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Cardiovascular phenotype
Homozygous familial hypercholesterolemia
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Cardiovascular phenotype
Homozygous familial hypercholesterolemia
Population Frequencies
gnomAD ALL
100%
Other Variants in LDLR