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Hemoglobin

SMAD1 · rs714195

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 350,474 European ancestry individuals, 152,447 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0108 higher (95% confidence interval 0.0075-0.0141); p = 2 × 10−10.

Where it sits Chromosome 4, band 4q31.21 — in an intron of SMAD1.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hemoglobin compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hemoglobin.
T/T Published research associates this genotype with typical/baseline likelihood of Hemoglobin — no copies of the reported risk allele.
Source
A cross-population atlas of genetic associations for 220 human phenotypes
Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A
and 34 more — show all
Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y
FinnGen
Nature genetics · 2021 · PMID 34594039

Questions about rs714195

What is rs714195?

rs714195 is a single position in the genome, in or near the SMAD1 gene. Published research associates it with hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs714195 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 rs714195 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. 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.

Hemoglobin (rs714195). MyGeneLog™. https://www.mygenelog.com/variants/rs714195

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