rs2111485

This is a intergenic variant variant in the LOC105373724 gene.

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GWAS Catalog Trait Associations (21)

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

hypothyroidism

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele G

OR 0.05

p 1.0e-44

N 1,786,062

Large GWAS

European

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)

Allele G

OR 0.06

p 3.0e-35

N 1,178,661

Large GWAS

European

Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)

Allele G

OR 1.08

p 4.0e-21

N 691,986

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.08

p 1.0e-15

N 583,911

Large GWAS

multi-ancestry

Mathieu S et al. “Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.” Iscience 25(9):104992 (2022)

Allele G

OR 0.08

p 1.0e-21

N 494,577

Large GWAS

European

level of bone marrow stromal antigen 2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.06

p 2.0e-28

N 47,745

Large GWAS

European

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)

Allele G

OR 1.30

p 6.0e-25

N 40,258

Large GWAS

European

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.30

p 2.0e-12

N 450,755

Major Consortium StudyLarge GWAS

European

Jin Y et al. “Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.” Nature Genetics 44(6):676-80 (2012)

Allele G

OR 1.30

p 5.0e-15

N 3,228

Large GWAS

European

myeloid leukocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR —

p 1.0e-20

N 746,667

Large GWAS

multi-ancestry

psoriatic arthritis

Soomro M et al. “Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling.” Arthritis & Rheumatology (hoboken, N.j.) 74(9):1535-1543 (2022)

Allele G

OR 1.25

p 1.0e-20

N 26,351

Large GWAS

European

sialoadhesin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.05

p 6.0e-19

N 47,745

Large GWAS

European

lymphocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR 0.02

p 4.0e-18

N 524,923

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.01

p 6.0e-10

N 445,573

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.02

p 1.0e-13

N 408,112

Large GWAS

European

type 1 diabetes mellitus

Onengut-Gumuscu S et al. “Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.” Nature Genetics 47(4):381-6 (2015)

Allele G

OR 1.18

p 4.0e-18

N 21,526

Large GWAS

European

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)

Allele A

OR 0.07

p 2.0e-17

N 718,496

Large GWAS

multi-ancestry

Bentham J et al. “Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.” Nature Genetics 47(12):1457-1464 (2015)

Allele A

OR 1.15

p 1.0e-11

N 14,267

Large GWAS

European

eosinophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.02

p 6.0e-17

N 408,112

Large GWAS

European

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR 0.02

p 1.0e-15

N 474,237

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.01

p 1.0e-12

N 442,919

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 6.0e-15

N 394,642

Large GWAS

European

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Research that mentions this SNP (1)

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The association between the IFIH1 locus and type 1 diabetes

AssociationN=1,767Qu HQ et al.(2008)· Diabetologia

This study validates the association between IFIH1 gene variants and type 1 diabetes in an independent cohort of 589 family trios (1,767 individuals) of mixed European descent. Using family-based association testing, the authors confirmed significant associations for rs2111485 (OR=0.84, p=0.0244) and rs984971 (OR=0.85, p=0.0455), replicating the previously reported IFIH1 locus findings. The results support the role of innate antivirus immunity in type 1 diabetes pathogenesis.

Traits studied:Type 1 diabetes

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs2111485

GWAS Catalog Trait Associations (21)

hypothyroidism

level of bone marrow stromal antigen 2 in blood

Vitiligo

myeloid leukocyte count

psoriatic arthritis

sialoadhesin measurement

lymphocyte count

type 1 diabetes mellitus

systemic lupus erythematosus

eosinophil count

Research that mentions this SNP (1)

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