Variant (rsID / SNP)

rs2306283

rs2306283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLCO1B1. Location: chromosome 12, position 21,329,738. Clinical significance in the table: Benign.

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Reference-table entries

SLCO1B1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:21329738
Cytoband: 12p12.1
HGVS: NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp)
Allele change: Missense_N130D

Associated conditions / phenotypes

Rotor syndrome|Gilbert syndrome

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.