rs9398171

▶

GWAS Catalog Trait Associations (6)

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

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 2.0e-36
N 337,739
Large GWAS
European

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)
Allele C
OR 0.31
p 4.0e-24
N 43,148
Large GWAS
multi-ancestry
Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele C
OR 0.50
p 8.0e-22
N 31,434
Major Consortium StudyLarge GWAS
European

ganglion thickness

Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele T
OR 0.50
p 8.0e-22
N 31,434
Major Consortium StudyLarge GWAS
European

schizophrenia

Li Z et al. “Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.” Nature Genetics 49(11):1576-1583 (2017)
Allele C
OR 1.07
p 2.0e-11
N 108,341
Large GWAS
multi-ancestry
Trubetskoy V et al. “Mapping genomic loci implicates genes and synaptic biology in schizophrenia.” Nature 604(7906):502-508 (2022)
Allele C
OR 1.05
p 2.0e-10
N 175,799
Large GWAS
multi-ancestry
Goes FS et al. “Genome-wide association study of schizophrenia in Ashkenazi Jews.” American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics 168(8):649-59 (2015)
Allele C
OR 1.06
p 4.0e-8
N 151,161
Large GWAS
Other
Ikeda M et al. “Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.” Schizophrenia Bulletin 45(4):824-834 (2019)
Allele C
OR 1.07
p 2.0e-11
N 122,624
Large GWAS
multi-ancestry

retinal nerve fibre layer thickness

Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele T
OR 0.23
p 1.0e-8
N 31,434
Major Consortium StudyLarge GWAS
European

coffee consumption measurement

Cole JB et al. “Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.” Nature Communications 11(1):1467 (2020)
Allele C
OR 0.01
p 2.0e-8
N 448,204
Major Consortium StudyLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Genetic variation of FTO: rs1421085 T&gt;C, rs8057044 G&gt;A, rs9939609 T&gt;A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight
ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes
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…