Standard

Mean corpuscular hemoglobin concentration

SPTA1 · rs148912436

Where this position leads

What the study found

Who was studied 408,112 British individuals.

The effect Each copy of the C allele shifted the measure 0.12 higher (95% confidence interval 0.1-0.139); p = 2 × 10⁻²⁶.

How common The C allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 1, band 1q23.1 — a missense change in SPTA1.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Hereditary spherocytosis type 3, Elliptocytosis 2, Pyropoikilocytosis, hereditary; criteria provided, conflicting classifications (1 of 4 stars, 10 submitters), last evaluated 2026-04-01. ClinVar record 258918 NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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

C/C Two copies of the version the research linked to Mean corpuscular hemoglobin concentration. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Mean corpuscular hemoglobin concentration. That is a smaller link than two copies.

T/T No copy of the version the research linked to Mean corpuscular hemoglobin concentration. This is the starting point the study compared everyone against.

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 rs148912436

What is rs148912436?

rs148912436 is a single position in the genome, in or near the SPTA1 gene. Published research associates it with mean corpuscular hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs148912436 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 rs148912436 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 rs148912436 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 concentration (rs148912436). MyGeneLog™. https://www.mygenelog.com/variants/rs148912436

← See all variants