Variant (rsID / SNP)

rs28517482

rs28517482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG8. Location: chromosome 2, position 44,101,538. Clinical significance in the table: Benign.

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Reference-table entries

ABCG8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:44101538
Cytoband: 2p21
HGVS: NM_022437.3(ABCG8):c.1412-8C>T
Allele change: Silent

Associated conditions / phenotypes

Sitosterolemia 1

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.