rs2228570
NM_000376.3(VDR):c.2T>C (p.Met1Thr)
- Vitamin D-dependent rickets type II with alopecia (VDDR2A)Conflicting interpretations · ★ · germline
- PeriodontitisBenign · germline
- not providedBenign · ★★ · germline
- not specifiedBenign · ★ · germline
gnomAD allele frequency 6.48e-1
rs2228570 is a genetic variant located in the VDR gene. dbsnp · gene
In gnomAD, rs2228570 has an overall allele frequency of 64.8%. gnomad · frequency
In ClinVar, rs2228570 is classified as Conflicting interpretations for Vitamin D-dependent rickets type II with alopecia (VDDR2A) (1 review star, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2228570 is classified as Benign for Periodontitis (0 review stars, germline; last evaluated 2023-04-20). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2228570 is classified as Benign for not provided (2 review stars, germline; last evaluated 2025-02-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs2228570 is classified as Benign for not specified (1 review star, germline; last evaluated 2016-02-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 26cb66156f3fbb85 · 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.