Genetics Genetics Research
CHROMOSOME 6 HFE 6p22.2 GENE VIEW HFE · 6p22.2 6p23 6p21 rs1799945 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs1799945 Histidine 63 → Aspartic Acid C / G · HFE · 6p22.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs1799945

Histidine 63 → Aspartic Acid Gene: HFE — Homeostatic Iron Regulator Chr 6:26090951 6p22.2 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.86551G 0.13449CC 0.750873CG/GC 0.229274GG 0.019853pop=124,820 ↬
African C 0.9645G 0.0355CC 0.931735CG/GC 0.065444GG 0.002821pop=7,090
African American C 0.9633G 0.0367CC 0.929598CG/GC 0.067468GG 0.002933pop=6,818
African Others C 0.993G 0.007CC 0.985294CG/GC 0.014706GG 0pop=272
Asian C 0.963G 0.037CC 0.927718CG/GC 0.07049GG 0.001792pop=3,348
East Asian C 0.9583G 0.0417CC 0.918033CG/GC 0.080477GG 0.00149pop=2,684
European C 0.853824G 0.146176CC 0.729818CG/GC 0.248011GG 0.022171pop=103,560
Latin American 1 C 0.876G 0.124CC 0.763636CG/GC 0.225GG 0.011364pop=880
Latin American 2 C 0.8988G 0.1012CC 0.80602CG/GC 0.185619GG 0.008361pop=1,196
Other C 0.8799G 0.1201CC 0.77539CG/GC 0.209022GG 0.015588pop=8,468
Other Asian C 0.982G 0.018CC 0.966867CG/GC 0.03012GG 0.003012pop=664
South Asian C 0.906G 0.094CC 0.827338CG/GC 0.158273GG 0.014388pop=278

Studies0

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These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0 ▼

No unused studies.