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Lung function (FEV1/FVC)

TBX1 · rs72646967

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 475,645 European ancestry individuals, 8,590 African ancestry individuals, 85,279 East Asian ancestry individuals, 4,270 South Asian ancestry individuals, 14,668 Hispanic or Latin American individuals.

The effect Each copy of the A allele shifted the measure 7.24 z score higher; p = 5 × 10⁻¹³.

How common The A allele had a frequency of about 75% in the people studied.

Where it sits Chromosome 22, band 22q11.21 — a missense change in TBX1.

What ClinVar records

Classification Benign/Likely benign for Cardiovascular phenotype, DiGeorge syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 12 submitters), last evaluated 2026-02-04. ClinVar record 263351 NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)

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

A/A Two copies of the version the research linked to Lung function (FEV1/FVC). That is the strongest link of the three results. A link in a study is not a diagnosis.

A/C One copy of the version the research linked to Lung function (FEV1/FVC). That is a smaller link than two copies.

C/C No copy of the version the research linked to Lung function (FEV1/FVC). This is the starting point the study compared everyone against.

Source

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Shrine N, Izquierdo AG, Chen J, Packer R, Hall RJ, Guyatt AL, Batini C, Thompson RJ, Pavuluri C, Malik V, Hobbs BD, Moll M

and 136 more — show all

Kim W, Tal-Singer R, Bakke P, Fawcett KA, John C, Coley K, Piga NN, Pozarickij A, Lin K, Millwood IY, Chen Z, Li L, Wijnant SRA, Lahousse L, Brusselle G, Uitterlinden AG, Manichaikul A, Oelsner EC, Rich SS, Barr RG, Kerr SM, Vitart V, Brown MR, Wielscher M, Imboden M, Jeong A, Bartz TM, Gharib SA, Flexeder C, Karrasch S, Gieger C, Peters A, Stubbe B, Hu X, Ortega VE, Meyers DA, Bleecker ER, Gabriel SB, Gupta N, Smith AV, Luan J, Zhao JH, Hansen AF, Langhammer A, Willer C, Bhatta L, Porteous D, Smith BH, Campbell A, Sofer T, Lee J, Daviglus ML, Yu B, Lim E, Xu H, O'Connor GT, Thareja G, Albagha OME, Suhre K, Granell R, Faquih TO, Hiemstra PS, Slats AM, Mullin BH, Hui J, James A, Beilby J, Patasova K, Hysi P, Koskela JT, Wyss AB, Jin J, Sikdar S, Lee M, May-Wilson S, Pirastu N, Kentistou KA, Joshi PK, Timmers PRHJ, Williams AT, Free RC, Wang X, Morrison JL, Gilliland FD, Chen Z, Wang CA, Foong RE, Harris SE, Taylor A, Redmond P, Cook JP, Mahajan A, Lind L, Palviainen T, Lehtimäki T, Raitakari OT, Kaprio J, Rantanen T, Pietiläinen KH, Cox SR, Pennell CE, Hall GL, Gauderman WJ, Brightling C, Wilson JF, Vasankari T, Laitinen T, Salomaa V, Mook-Kanamori DO, Timpson NJ, Zeggini E, Dupuis J, Hayward C, Brumpton B, Langenberg C, Weiss S, Homuth G, Schmidt CO, Probst-Hensch N, Jarvelin MR, Morrison AC, Polasek O, Rudan I, Lee JH, Sayers I, Rawlins EL, Dudbridge F, Silverman EK, Strachan DP, Walters RG, Morris AP, London SJ, Cho MH, Wain LV, Hall IP, Tobin MD

China Kadoorie Biobank Collaborative Group · Qatar Genome Program Research (QGPR) Consortium

Nature genetics · 2023 · PMID 36914875 · open access

Questions about rs72646967

What is rs72646967?

rs72646967 is a single position in the genome, in or near the TBX1 gene. Published research associates it with lung function (fev1/fvc). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs72646967 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 rs72646967 come from?

GWAS Catalog, Nature genetics 2023, PMID:36914875. 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.

Lung function (FEV1/FVC) (rs72646967). MyGeneLog™. https://www.mygenelog.com/variants/rs72646967

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