rs2306283
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp)
- Rotor syndrome (HBLRR)Benign · ★★ · germline
- Gilbert syndromeBenign · inherited
- not providedBenign · ★★ · germline
- not specifiedBenign · ★ · germline
gnomAD allele frequency 5.30e-1
rs2306283 is a genetic variant located in the SLCO1B1 gene. dbsnp · gene
In gnomAD, rs2306283 has an overall allele frequency of 53.0%. gnomad · frequency
In ClinVar, rs2306283 is classified as Benign for Rotor syndrome (HBLRR) (2 review stars, germline; last evaluated 2024-11-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2306283 is classified as Benign for Gilbert syndrome (0 review stars, inherited; last evaluated 2019-05-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2306283 is classified as Benign for not provided (2 review stars, germline; last evaluated 2018-03-13). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2306283 is classified as Benign for not specified (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin
retrieved 2026-08-03 · facts 1fcdccfb7501dd53 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.