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Variant (rsID / SNP)

rs71581941

SLCO1B1

rs71581941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLCO1B1. Location: chromosome 12, position 21,375,289. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

SLCO1B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:21375289
Cytoband
12p12.1
HGVS
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter)
Allele change
Nonsense_R580X

Associated conditions / phenotypes

Rotor syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.