Standard
mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed)
TENT5C-DT · rs1992117
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 114,852 African American or Afro-Caribbean individuals, 55,783 Hispanic or Latin American individuals, 5,942 East Asian ancestry individuals, 407,288 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.0423 higher (95% confidence interval 0.035-0.049); p = 6 × 10−34.
How common The C allele had a frequency of about 75% in the people studied.
Where it sits Chromosome 1, band 1p12 — in an intron of TENT5C-DT.
What each result means
C/C
Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) compared to the general population.
C/G
Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed).
G/G
Published research associates this genotype with typical/baseline likelihood of mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) — no copies of the reported risk allele.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A,
Huffman JE,
Rodriguez A,
Conery M,
Liu M,
Ho YL,
Kim Y,
Heise DA,
Guare L,
Panickan VA,
Garcon H,
Linares F
and 59 more — show all
Costa L,
Goethert I,
Tipton R,
Honerlaw J,
Davies L,
Whitbourne S,
Cohen J,
Posner DC,
Sangar R,
Murray M,
Wang X,
Dochtermann DR,
Devineni P,
Shi Y,
Nandi TN,
Assimes TL,
Brunette CA,
Carroll RJ,
Clifford R,
Duvall S,
Gelernter J,
Hung A,
Iyengar SK,
Joseph J,
Kember R,
Kranzler H,
Kripke CM,
Levey D,
Luoh SW,
Merritt VC,
Overstreet C,
Deak JD,
Grant SFA,
Polimanti R,
Roussos P,
Shakt G,
Sun YV,
Tsao N,
Venkatesh S,
Voloudakis G,
Justice A,
Begoli E,
Ramoni R,
Tourassi G,
Pyarajan S,
Tsao P,
O'Donnell CJ,
Muralidhar S,
Moser J,
Casas JP,
Bick AG,
Zhou W,
Cai T,
Voight BF,
Cho K,
Gaziano JM,
Madduri RK,
Damrauer S,
Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs1992117
What is rs1992117?
rs1992117 is a single position in the genome, in or near the TENT5C-DT gene. Published research associates it with mean corpuscular hemoglobin (mch, maximum, inv-norm transformed). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs1992117 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 rs1992117 come from?
GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Quoting this page
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mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) (rs1992117). MyGeneLog™. https://www.mygenelog.com/variants/rs1992117
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