← Genclarus

rs2231142

NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)

ABCG2missense variantp.Gln141Lyssingle nucleotide variant
ClinVar by condition
  • rosuvastatin response - EfficacyDrug response · ★★★ · germline
  • rosuvastatin response - Metabolism/PKDrug response · ★★★ · germline
  • Gemcitabine responseDrug response · ★ · germline
  • ABCG2-related disorderBenign · germline
  • BLOOD GROUP, JUNIOR SYSTEM (JR)association · germline
  • Uric acid concentration, serum, quantitative trait locus 1 (UAQTL1)association · germline

gnomAD allele frequency 9.38e-2

rs2231142 is a genetic variant located in the ABCG2 gene. dbsnp · gene

In gnomAD, rs2231142 has an overall allele frequency of 9.4%. gnomad · frequency

In ClinVar, rs2231142 is classified as Drug response (efficacy) for rosuvastatin response (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs2231142 is classified as Drug response for rosuvastatin response - Metabolism/PK (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs2231142 is classified as Drug response for Gemcitabine response (1 review star, germline; last evaluated 2017-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs2231142 is classified as Benign for ABCG2-related disorder (0 review stars, germline; last evaluated 2019-11-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs2231142 is classified as association for BLOOD GROUP, JUNIOR SYSTEM (JR) (0 review stars, germline; last evaluated 2013-03-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs2231142 is classified as association for Uric acid concentration, serum, quantitative trait locus 1 (UAQTL1) (0 review stars, germline; last evaluated 2009-11-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 2142524c9a613db0 · 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.