Variant (rsID / SNP)

rs9282574

rs9282574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG8. Location: chromosome 2, position 44,079,559. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCG8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:44079559
Cytoband: 2p21
HGVS: NM_022437.3(ABCG8):c.628G>A (p.Val210Met)
Allele change: Missense_V210M

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.