rs2261033

▶

GWAS Catalog Trait Associations (8)

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

allograft inflammatory factor 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.28
p 2.0e-107
N 10,708
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.10
p 4.0e-62
N 47,745
Large GWAS
European

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.03
p 3.0e-101
N 405,540
Large GWAS
European
Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)
Allele A
OR 0.05
p 9.0e-11
N 57,129
Large GWAS
European

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele G
OR 0.03
p 2.0e-20
N 246,862
Large GWAS
European, South Asian

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 2.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 2.0e-12
N 186,825
Major Consortium StudyLarge GWAS
European

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele A
OR 0.05
p 1.0e-8
N 379,422
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 2.0e-11
N 219,872
Major Consortium StudyLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population
AssociationN=544Juan Zhang et al.(2021)· Journal of Neurology

This case-control study of 207 NMOSD patients (98 AQP4+ and 109 AQP4-), 141 MS patients, and 196 healthy controls identified common variants in PRRC2A gene associated with disease susceptibility. PRRC2A variants rs2736171, rs2736157, and rs2844470 were associated with AQP4+ NMOSD (p=0.005, p=0.004, and p<0.05 respectively), while rs2242659 was associated with MS (p=0.0038). The protective haplotype TTA-GAG-TAG showed strong protective effects for both AQP4+ and AQP4- NMOSD (OR 0.067 and 0.283 respectively), and three cis-eQTL SNPs (rs2736157, rs2736171, rs2242659) were found to modulate gene expression in disease-related brain regions (p values from 2.25×10⁻⁵ to 3.38×10⁻²⁷).

Traits studied:Multiple sclerosis (MS)Neuromyelitis optica spectrum disorder (NMOSD)
PubMedDOIMetascience Observatory

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…