Variant (rsID / SNP)

rs147509697

rs147509697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,200,282. Clinical significance in the table: Benign.

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Reference-table entries

LDLRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:11200282
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
Allele change: Missense_G20R

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|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.