Variant (rsID / SNP)

rs146780296

rs146780296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLCO1B3. Location: chromosome 12, position 21,030,723. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLCO1B3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:21030723
Cytoband: 12p12.2
HGVS: NM_019844.4(SLCO1B3):c.988A>G (p.Lys330Glu)
Allele change: Missense_K330E

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.