rs1050828
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
- G6PD deficiencyPathogenic · ★★ · germline
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1)Likely pathogenic · ★★ · germline
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1)Likely pathogenic · ★★ · unknown
- Malaria, susceptibility toPathogenic · ★ · unknown
- Inborn genetic diseasesPathogenic · ★ · germline
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1)Pathogenic · ★ · germline
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1)Uncertain significance · ★ · unknown
- G6PD ASAHIother · germline
- not providedPathogenic · ★★ · germline
- not specifiedPathogenic · ★ · germline
gnomAD allele frequency 3.24e-2
rs1050828 is a genetic variant located in the G6PD gene. dbsnp · gene
In gnomAD, rs1050828 has an overall allele frequency of 3.2%. gnomad · frequency
In ClinVar, rs1050828 is classified as Pathogenic for G6PD deficiency (2 review stars, germline; last evaluated 2023-02-13). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1050828 is classified as Likely pathogenic for Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1) (2 review stars, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1050828 is classified as Likely pathogenic (risk factor) for Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1) (2 review stars; last evaluated 2022-12-23). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1050828 is classified as Pathogenic for Malaria, susceptibility to (1 review star; last evaluated 2024-03-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1050828 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2023-11-20). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1050828 is classified as Pathogenic for Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1) (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin
In ClinVar, rs1050828 is classified as Uncertain significance for Anemia, nonspherocytic hemolytic, due to G6PD deficiency (CNSHA1) (1 review star; last evaluated 2022-08-12). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1050828 is classified as other for G6PD ASAHI (0 review stars, germline; last evaluated 2013-10-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1050828 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1050828 is classified as Pathogenic for not specified (1 review star, germline; last evaluated 2018-07-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 9163f03a4ed6e7e5 · 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.