rs10483727

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GWAS Catalog Trait Associations (10)

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

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.04
p 7.0e-80
N 450,243
Major Consortium StudyLarge GWAS
European

whole body water mass

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 0.02
p 2.0e-58
N 394,642
Large GWAS
European

health trait

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 T
OR 0.02
p 5.0e-51
N 405,979
Large GWAS
European

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 C
OR 0.02
p 7.0e-43
N 337,739
Large GWAS
European

optic disc size trait

Han X et al. “Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.” Human Molecular Genetics 28(21):3680-3690 (2019)
Allele T
OR —
β 0.020
p 3.0e-21
N 67,040
Large GWAS
European
Ramdas WD et al. “A genome-wide association study of optic disc parameters.” Plos Genetics 6(6):e1000978 (2010)
Allele T
OR 0.01
p 1.0e-11
N 7,360
Large GWAS
European

open-angle glaucoma

Gharahkhani P et al. “Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.” Nature Genetics 46(10):1120-1125 (2014)
Allele T
OR 1.32
p 2.0e-17
N 3,077
Large GWAS
European
Bailey JN et al. “Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.” Nature Genetics 48(2):189-94 (2016)
Allele T
OR —
p 2.0e-9
N 33,365
Large GWAS
European
Wiggs JL et al. “Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.” Plos Genetics 8(4):e1002654 (2012)
Allele T
OR 1.32
p 4.0e-11
N 6,633
Large GWAS
European

retinal vasculature measurement

Jiang X et al. “GWAS on retinal vasculometry phenotypes.” Plos Genetics 19(2):e1010583 (2023)
Allele T
OR 0.02
p 2.0e-11
N 52,798
Large GWAS
European

forced expiratory volume

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 T
OR 0.01
p 1.0e-10
N 373,397
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.03
p 1.0e-54
N 455,180
Large GWAS
Hispanic or Latin American
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 0.03
p 5.0e-97
N 405,540
Large GWAS
European

optic cup area

Springelkamp H et al. “Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.” Genetic Epidemiology 39(3):207-16 (2015)
Allele T
OR 0.02
p 4.0e-17
N 17,218
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open‐angle glaucoma
AssociationN=2,500Mohd Hussain Shah et al.(2017)· Molecular Genetics &amp; Genomic Medicine

This study examined SIX6 genetic variants in South Indian POAG patients and identified two known common variants (rs33912345: c.421A>C, OR=0.919, p=0.3888; rs10483727/rs1048372, p=0.5879) and a novel 4 bp deletion in the SIX6 retinal enhancer (Chr14:60974427-60974430). While the SNPs showed no significant disease association in the South Indian cohort, patients carrying the risk alleles exhibited dose-dependent reductions in retinal nerve fiber layer thickness and increased vertical cup-disc ratio (p=0.012 and p=0.009 respectively). Functional studies via zebrafish transgenesis and luciferase assays demonstrated that the 4 bp deletion impaired enhancer activity, suggesting SIX6 haploinsufficiency may contribute to POAG pathogenesis.

Traits studied:Primary open-angle glaucomaRetinal nerve fiber layer thicknessVertical cup-disc ratio
PubMedDOIMetascience Observatory
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Genome-wide association study and meta-analysis of intraocular pressure
Meta-analysisN=6,236Ozel AB et al.(2014)· Human Genetics

Genome-wide association study and meta-analysis of intraocular pressure (IOP) in 6,236 European ancestry subjects from three cohorts (NEIGHBOR, GLAUGEN, AMD-MMAP MI). Meta-analysis identified a significant association at TMCO1 (rs7518099-G, beta = 0.76 mmHg/allele, p = 8.0 × 10−8). The study replicated previously reported associations at TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6 loci with consistent effect sizes and directions. Results show gender-specific effects and age-dependent trends for IOP association with common variants.

Traits studied:Intraocular pressurePrimary open-angle glaucoma
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.

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