rs1130809

This is a synonymous variant in the PNRC1 gene — it does not change the protein's amino acid sequence.

▶

GWAS Catalog Trait Associations (1)

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

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.01
p 3.0e-15
N 525,444
Large GWAS
multi-ancestry
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 C
OR 0.01
p 3.0e-9
N 405,540
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 C
OR 0.01
p 1.0e-12
N 394,642
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
GABRR1andGABRR2, encoding the GABA‐A receptor subunits ρ1 and ρ2, are associated with alcohol dependence
AssociationN=1,923Xiaoling Xuei et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Family-based association study of GABRR1 and GABRR2 (GABA-A receptor ρ1 and ρ2 subunits) with alcohol dependence in 1,923 European Americans from 219 multiplex families. Six SNPs were significantly associated with DSM-IV alcohol dependence (p<0.05), with rs282129 (Met430Thr coding SNP in GABRR2, p=0.03) being notable. Associations were strongest in individuals with early-onset alcohol dependence (age ≤21), with 16 SNPs showing significant association in this subgroup.

Traits studied:Alcohol dependenceAlcoholism
PubMedDOIMetascience Observatory

About PNRC1

Predicted to be involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Predicted to be active in P-body and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all PNRC1 variants →

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…