Variant (rsID / SNP)

rs766709484

rs766709484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,213,449. Clinical significance in the table: Likely benign.

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Reference-table entries

LDLRLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:11213449
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.300C>T (p.Asp100=)
Allele change: Missense_D100E

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Familial hypercholesterolemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.