RS137929307 LDLR

Health Risk Chr 19:11116927 snv missense variant
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What This Variant Does
"aka .1775G&gt
Associated Conditions
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Homozygous familial hypercholesterolemia
Cardiovascular phenotype
Syndromic X-linked intellectual disability Najm type
See cases
Dyslipidemia
Cardiovascular phenotype
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Homozygous familial hypercholesterolemia
Population Frequencies
gnomAD ALL
0%
Other Variants in LDLR
rs121908024 rs121908025 rs121908026 rs28942082 rs28942083 rs121908028 rs121908029 rs121908030 rs28942078 rs28942079
Ask Dr. Hemsworth about this variant