rs34311866

This is a variant in the TMEM175 gene that changes a methionine to an threonine.

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GWAS Catalog Trait Associations (22)

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

Parkinson disease

Kim JJ et al. “Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.” Nature Genetics 56(1):27-36 (2024)
Allele T
OR —
p 5.0e-75
N 2,525,730
Meta-analysisLarge GWAS
multi-ancestry
Doostparast Torshizi A et al. “Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson's disease.” Nature Communications 15(1):6430 (2024)
Allele T
OR 0.17
p 1.0e-12
N 539,017
Large GWAS
European
Nalls MA et al. “Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.” The Lancet. Neurology 18(12):1091-1102 (2019)
Allele T
OR 0.21
p 1.0e-69
N 482,730
Meta-analysisLarge GWAS
European
Chang D et al. “A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.” Nature Genetics 49(10):1511-1516 (2017)
Allele T
OR 1.23
p 1.0e-50
N 417,508
Meta-analysisLarge GWAS
European
Nalls MA et al. “Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.” Nature Genetics 46(9):989-93 (2014)
Allele T
OR 1.27
p 1.0e-43
N 108,990
Meta-analysisLarge GWAS
European
Rodrigo LM et al. “Imputation and Reanalysis of ExomeChip Data Identifies Novel, Conditional and Joint Genetic Effects on Parkinson's Disease Risk.” Genes 12(5) (2021)
Allele T
OR 1.25
p 6.0e-11
N 10,533
Large GWAS
European

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.03
p 2.0e-16
N 219,872
Major Consortium StudyLarge GWAS
European
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 C
OR 0.02
p 3.0e-15
N 379,501
Meta-analysisLarge GWAS
European

alpha-L-iduronidase measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.14
p 5.0e-16
N 10,708
Large GWAS
European

triglycerides to phosphoglycerides ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-15
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 C
OR —
p 5.0e-15
N 2,535,601
Large GWAS
multi-ancestry

triglyceride measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.02
p 6.0e-15
N 1,320,016
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.01
p 2.0e-9
N 928,679
Large GWAS
multi-ancestry
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 C
OR 0.03
p 4.0e-13
N 558,637
Major Consortium StudyLarge 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 C
OR 0.02
p 1.0e-11
N 394,642
Large GWAS
European
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
β 0.022
p 5.0e-10
N 71,394
Large GWAS
multi-ancestry

VLDL particle size

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-13
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in medium LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-12
N 450,015
Large GWAS
multi-ancestry

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.03
p 3.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About TMEM175

Enables arachidonate binding activity; potassium ion leak channel activity; and proton channel activity. Involved in lysosomal lumen pH elevation; potassium ion transmembrane transport; and proton transmembrane transport. Located in endosome membrane and lysosome. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all TMEM175 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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