rs4149117
NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala)
- Rotor syndrome (HBLRR)Benign · ★★ · germline
- SLCO1B3-related disorderBenign · germline
- not providedBenign · ★★ · germline
gnomAD allele frequency 7.04e-1
In gnomAD, rs4149117 has an overall allele frequency of 70.4%. gnomad · frequency
In ClinVar, rs4149117 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, rs4149117 is classified as Benign for SLCO1B3-related disorder (0 review stars, germline; last evaluated 2021-12-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs4149117 is classified as Benign for not provided (2 review stars, germline; last evaluated 2018-11-12). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts e018022ebd56bc1d · 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.