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rs2231137

NM_004827.3(ABCG2):c.34G>A (p.Val12Met)

ABCG2missense variantp.Val12Metsingle nucleotide variant
ClinVar by condition
  • ABCG2-related disorderLikely benign · germline
  • Uric acid concentration, serum, quantitative trait locus 1 (UAQTL1)association · germline
  • BLOOD GROUP, JUNIOR SYSTEM (JR)Affects · germline

gnomAD allele frequency 7.77e-2

rs2231137 is a genetic variant located in the ABCG2 gene. dbsnp · gene

In gnomAD, rs2231137 has an overall allele frequency of 7.8%. gnomad · frequency

In ClinVar, rs2231137 is classified as Likely benign for ABCG2-related disorder (0 review stars, germline; last evaluated 2021-07-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs2231137 is classified as association for Uric acid concentration, serum, quantitative trait locus 1 (UAQTL1) (0 review stars, germline; last evaluated 2012-01-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs2231137 is classified as Affects for BLOOD GROUP, JUNIOR SYSTEM (JR) (0 review stars, germline; last evaluated 2012-01-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 43d5797befbb221f · 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.