rs12638862

This is a regulatory region variant variant.

▶

GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

uterine fibroid

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)
Allele A
OR 0.09
p 1.0e-27
N 434,152
Meta-analysisLarge GWAS
European
Rafnar T et al. “Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.” Nature Communications 9(1):3636 (2018)
Allele A
OR 1.08
p 3.0e-8
N 539,925
Large GWAS
European

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR —
p 1.0e-12
N 721,201
Large GWAS
multi-ancestry

systolic blood pressure

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele G
OR 0.26
p 5.0e-12
N 459,777
Large GWAS
multi-ancestry

mean corpuscular hemoglobin

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.02
p 1.0e-9
N 128,028
Large GWAS
East Asian

erythrocyte volume

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.02
p 4.0e-9
N 129,832
Large GWAS
East Asian

pulse pressure measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 6.0e-9
N 506,308
Large GWAS
multi-ancestry

chromosome, telomeric region length

Delgado DA et al. “Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal.” Journal of Medical Genetics 55(1):64-71 (2018)
Allele G
OR 0.13
p 2.0e-8
N 5,075
Large GWAS
South Asian

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…