Standard
Red blood cell count
CNTN2 · rs6662930
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 727,624 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.
The effect
The reported allele is C; the catalogue records no effect size
; p = 8 × 10−39.
How common The C allele had a frequency of about 37% in the people studied.
Where it sits Chromosome 1, band 1q32.1 — in an intron of CNTN2.
What each result means
C/C
Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Red blood cell count compared to the general population.
C/T
Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Red blood cell count.
T/T
Published research associates this genotype with typical/baseline likelihood of Red blood cell count — no copies of the reported risk allele.
Source
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Chen MH,
Raffield LM,
Mousas A,
Sakaue S,
Huffman JE,
Moscati A,
Trivedi B,
Jiang T,
Akbari P,
Vuckovic D,
Bao EL,
Zhong X
and 98 more — show all
Manansala R,
Laplante V,
Chen M,
Lo KS,
Qian H,
Lareau CA,
Beaudoin M,
Hunt KA,
Akiyama M,
Bartz TM,
Ben-Shlomo Y,
Beswick A,
Bork-Jensen J,
Bottinger EP,
Brody JA,
van Rooij FJA,
Chitrala K,
Cho K,
Choquet H,
Correa A,
Danesh J,
Di Angelantonio E,
Dimou N,
Ding J,
Elliott P,
Esko T,
Evans MK,
Floyd JS,
Broer L,
Grarup N,
Guo MH,
Greinacher A,
Haessler J,
Hansen T,
Howson JMM,
Huang QQ,
Huang W,
Jorgenson E,
Kacprowski T,
Kähönen M,
Kamatani Y,
Kanai M,
Karthikeyan S,
Koskeridis F,
Lange LA,
Lehtimäki T,
Lerch MM,
Linneberg A,
Liu Y,
Lyytikäinen LP,
Manichaikul A,
Martin HC,
Matsuda K,
Mohlke KL,
Mononen N,
Murakami Y,
Nadkarni GN,
Nauck M,
Nikus K,
Ouwehand WH,
Pankratz N,
Pedersen O,
Preuss M,
Psaty BM,
Raitakari OT,
Roberts DJ,
Rich SS,
Rodriguez BAT,
Rosen JD,
Rotter JI,
Schubert P,
Spracklen CN,
Surendran P,
Tang H,
Tardif JC,
Trembath RC,
Ghanbari M,
Völker U,
Völzke H,
Watkins NA,
Zonderman AB,
Wilson PWF,
Li Y,
Butterworth AS,
Gauchat JF,
Chiang CWK,
Li B,
Loos RJF,
Astle WJ,
Evangelou E,
van Heel DA,
Sankaran VG,
Okada Y,
Soranzo N,
Johnson AD,
Reiner AP,
Auer PL,
Lettre G
Cell · 2020 · PMID 32888493
Questions about rs6662930
What is rs6662930?
rs6662930 is a single position in the genome, in or near the CNTN2 gene. Published research associates it with red blood cell count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs6662930 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 rs6662930 come from?
GWAS Catalog, Cell 2020, PMID:32888493. 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.
Red blood cell count (rs6662930). MyGeneLog™. https://www.mygenelog.com/variants/rs6662930
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