Variant (rsID / SNP)

rs59502379

rs59502379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLCO1B1. Location: chromosome 12, position 21,358,933. Clinical significance in the table: Likely benign.

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Reference-table entries

SLCO1B1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:21358933
Cytoband: 12p12.1
HGVS: NM_006446.5(SLCO1B1):c.1463G>C (p.Gly488Ala)
Allele change: Missense_G488A

Associated conditions / phenotypes

Rotor 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.