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Mean corpuscular hemoglobin

HFE · rs1800730

Where this position leads

Condition: Blood Cell Counts

rs1800730 Condition: Blood Cell Counts Blood Cell Counts Condition rs1800730 rs1800730 HFE

What the study found

Who was studied 408,112 British individuals.

The effect Each copy of the T allele shifted the measure 0.152 higher (95% confidence interval 0.14-0.17); p = 8 × 10−69.

How common The T allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 6, band 6p22.2 — a missense change in HFE.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Hemochromatosis type 1, Hereditary hemochromatosis, HFE-related disorder; criteria provided, conflicting classifications (1 of 4 stars, 18 submitters), last evaluated 2026-06-01. ClinVar record 11 NM_000410.4(HFE):c.193A>T (p.Ser65Cys)

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin — no copies of the reported risk allele.
A/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular hemoglobin compared to the general population.
Source
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K
and 100 more — show all
Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N
VA Million Veteran Program
Cell · 2020 · PMID 32888494 · open access

Questions about rs1800730

What is rs1800730?

rs1800730 is a single position in the genome, in or near the HFE gene. Published research associates it with mean corpuscular hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1800730 linked to?

On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.

Does having rs1800730 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs1800730 come from?

GWAS Catalog, Cell 2020, PMID:32888494. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Mean corpuscular hemoglobin (rs1800730). MyGeneLog™. https://www.mygenelog.com/variants/rs1800730

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