Standard
Bone mineral density (spine)
EN1 · rs115242848
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 each result means
C/C
Published research associates this genotype with typical/baseline likelihood of Bone mineral density (spine) — no copies of the reported risk allele.
C/T
Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Bone mineral density (spine).
T/T
Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Bone mineral density (spine) compared to the general population.
Source
Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures
Styrkarsdottir U,
Thorleifsson G,
Gudjonsson SA,
Sigurdsson A,
Center JR,
Lee SH,
Nguyen TV,
Kwok TCY,
Lee JSW,
Ho SC,
Woo J,
Leung PC
and 11 more — show all
Kim BJ,
Rafnar T,
Kiemeney LA,
Ingvarsson T,
Koh JM,
Tang NLS,
Eisman JA,
Christiansen C,
Sigurdsson G,
Thorsteinsdottir U,
Stefansson K
Nature communications · 2016 · PMID 26733130 · open access
Questions about rs115242848
What is rs115242848?
rs115242848 is a single position in the genome, in or near the EN1 gene. Published research associates it with bone mineral density (spine). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs115242848 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 rs115242848 come from?
GWAS Catalog, Nat Commun 2016, PMID:26733130. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
← See all variants