rs334

rs334 is a genetic variant located in the HBB gene. dbsnp · gene

In gnomAD, rs334 has an overall allele frequency of 1.2%. gnomad · frequency

In ClinVar, rs334 is classified as Pathogenic for Hb SS disease (SCD) (2 review stars, germline; last evaluated 2024-04-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Beta-thalassemia HBB/LCRB (2 review stars, germline; last evaluated 2022-07-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for HBB-related disorder (2 review stars, germline; last evaluated 2022-03-05). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for beta Thalassemia (BTHAL) (2 review stars, germline; last evaluated 2019-10-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Dominant beta-thalassemia (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Heinz body anemia (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Malaria, susceptibility to (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for METHEMOGLOBINEMIA, BETA TYPE (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Erythrocytosis, familial, 6 (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Hereditary persistence of fetal hemoglobin (1 review star, germline; last evaluated 2024-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2023-10-13). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for alpha Thalassemia (1 review star, germline; last evaluated 2023-05-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Sickle cell-hemoglobin C disease (1 review star, germline; last evaluated 2023-02-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Dominant beta-thalassemia (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Fetal hemoglobin quantitative trait locus 1 (HBFQTL1) (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Heinz body anemia (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Hb SS disease (SCD) (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for alpha Thalassemia (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Malaria, susceptibility to (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for beta Thalassemia (BTHAL) (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for METHEMOGLOBINEMIA, BETA TYPE (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Erythrocytosis, familial, 6 (1 review star; last evaluated 2021-06-30). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Hereditary persistence of fetal hemoglobin (1 review star; last evaluated 2020-01-11). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Sickle cell disease and related diseases (1 review star, germline; last evaluated 2019-10-14). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Fetal hemoglobin quantitative trait locus 1 (HBFQTL1) (0 review stars, germline; last evaluated 2018-07-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for HEMOGLOBIN S (CAMEROON) (0 review stars, germline; last evaluated 2004-05-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for Sickle cell-Hemoglobin O Arab disease (0 review stars, germline; last evaluated 1999-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for HEMOGLOBIN S (ANTILLES) (0 review stars, germline; last evaluated 1997-06-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for HEMOGLOBIN S (TRAVIS) (0 review stars, germline; last evaluated 1992-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Pathogenic for HEMOGLOBIN S (PROVIDENCE) (0 review stars, germline; last evaluated 1988-10-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as Protective for Malaria, resistance to (0 review stars, germline; last evaluated 2011-12-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as not provided for HEMOGLOBIN S (0 review stars, germline; last evaluated 2023-09-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as other for HEMOGLOBIN JAMAICA PLAIN (0 review stars, germline; last evaluated 2017-12-12). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 is classified as other for HEMOGLOBIN ZIGUINCHOR (0 review stars, germline; last evaluated 2017-12-12). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs334 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, rs334 is classified as Pathogenic for See cases (1 review star, germline; last evaluated 2022-01-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date