rs6905288

This variant is located in the POLR1C gene.

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GWAS Catalog Trait Associations (43)

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

BMI-adjusted waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.04
p 9.0e-140
N 379,501
Meta-analysisLarge GWAS
European

waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.03
p 2.0e-78
N 697,734
Meta-analysisLarge GWAS
European
Heid IM et al. “Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.” Nature Genetics 42(11):949-60 (2010)
Allele A
OR —
β 0.040
p 6.0e-25
N 77,167
Meta-analysisLarge GWAS
European

triglyceride:HDL cholesterol ratio

DeForest N et al. “Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy.” Nature Communications 15(1):8068 (2024)
Allele A
OR 0.04
p 9.0e-63
N 382,129
Large GWAS
European, African unspecified, East Asian, Asian unspecified, NR, Other

cholesteryl esters to total lipids in small VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 3.0e-32
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 7.0e-30
N 450,015
Large GWAS
multi-ancestry

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele A
OR —
p 1.0e-27
N 2,535,601
Large GWAS
multi-ancestry
Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele A
OR 0.04
p 6.0e-9
N 251,740
Large GWAS
European

erythrocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 6.0e-26
N 408,112
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 0.01
p 3.0e-15
N 394,642
Large GWAS
European

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.15
p 1.0e-23
N 1,028,980
Large GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.02
p 8.0e-21
N 1,212,859
Large GWAS
European
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.14
p 6.0e-11
N 526,001
Large GWAS
European

platelet component distribution width

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 0.02
p 1.0e-20
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 5.0e-17
N 408,112
Large GWAS
European

hematocrit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 3.0e-20
N 408,112
Large GWAS
European
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Research that mentions this SNP (2)

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Association of the LINGO2-related SNP rs10968576 with body mass in a cohort of elderly Swedes
AssociationN=949Mathias Rask-Andersen et al.(2015)· Molecular Genetics and Genomics

Association study of 35 GWAS-identified body mass SNPs in 949 elderly Swedish participants (mean age 70-75 years). Significant association found between rs10968576 (LINGO2, intron 4) and BMI with a larger effect size (β = 0.69 kg/m²) than reported in younger populations, suggesting age-specific genetic effects on body mass in the elderly.

Traits studied:Body Mass IndexBody adiposityObesityOverweight
PubMedDOIMetascience Observatory
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Association studies of novel obesity-related gene variants with quantitative metabolic phenotypes in a population-based sample of 6,039 Danish individuals
AssociationN=6,039Burgdorf KS et al.(2012)· Diabetologia

This association study investigates 18 BMI-associated and 14 WHR-associated gene variants identified by prior GWAS in 6,039 Danish individuals from the Inter99 cohort. The study found that QPCTL rs2287019 C allele was associated with increased insulinogenic index (7.4%, p=4.0×10⁻⁷) and disposition index (5.6%, p=6.4×10⁻⁵), while LRP1B rs2890652 C allele was associated with insulin resistance (3.3% increase in HOMA-IR, p=0.0011). For WHR variants, LYPLAL1/SLC30A10 rs4846567 G allele carriers showed improved insulin sensitivity (5.2% lower HOMA-IR in women, p=0.00086), whereas VEGFA rs6905288 A allele carriers showed insulin resistance in women (3.7% increase in HOMA-IR, p=0.00036).

Traits studied:BIGTT-AIR (Beta Cell Function)Body Mass Index (BMI)Disposition IndexFasting Plasma GlucoseFasting Serum InsulinHOMA-IR (Insulin Resistance)Insulinogenic IndexMatsuda Index (Insulin Sensitivity)Waist-Hip Ratio (WHR)
PubMedDOIMetascience Observatory

About POLR1C

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all POLR1C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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