rs1800562

rs1800562 is a genetic variant located in the HFE gene. dbsnp · gene

In gnomAD, rs1800562 has an overall allele frequency of 3.8%. gnomad · frequency

In ClinVar, rs1800562 is classified as Pathogenic (low penetrance) for Hereditary hemochromatosis (HFE) (2 review stars, germline; last evaluated 2025-02-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Hemochromatosis type 1 (HFE1) (2 review stars, germline; last evaluated 2024-09-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2025-01-31). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for HFE-related disorder (1 review star, germline; last evaluated 2022-06-07). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Cardiomyopathy (CMYO) (1 review star, germline; last evaluated 2021-04-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Variegate porphyria (VP) (1 review star, germline; last evaluated 2021-03-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Microvascular complications of diabetes, susceptibility to, 7 (1 review star, germline; last evaluated 2021-03-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Alzheimer disease type 1 (AD1) (1 review star, germline; last evaluated 2021-03-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 (TFQTL2) (1 review star, germline; last evaluated 2021-03-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Familial porphyria cutanea tarda (PCT) (1 review star, germline; last evaluated 2021-03-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Abnormality of the nervous system (1 review star, germline; last evaluated 2018-05-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Atypical behavior (1 review star, germline; last evaluated 2018-05-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Abdominal pain (1 review star, germline; last evaluated 2018-05-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Abnormal peripheral nervous system morphology (1 review star, germline; last evaluated 2018-05-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Abnormality of the male genitalia (1 review star, germline; last evaluated 2018-05-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Pain (1 review star, germline; last evaluated 2018-05-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Peripheral neuropathy (1 review star, germline; last evaluated 2018-05-11). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Pathogenic for Hereditary cancer-predisposing syndrome (1 review star, germline; last evaluated 2015-12-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as Risk factor for Juvenile hemochromatosis (1 review star, germline; last evaluated 2020-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1800562 is classified as no classifications from unflagged record for Cutaneous photosensitivity (0 review stars; last evaluated 2023-11-14). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1800562 is classified as no classifications from unflagged record for Porphyrinuria (0 review stars; last evaluated 2023-11-14). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1800562 is classified as not provided for Bronze diabetes (0 review stars). clinvar · classificationclinvar · review confidence

In ClinVar, rs1800562 is classified as Pathogenic for not provided (2 review stars; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · assertion date