rs6599388
This is a intron variant variant in the TMEM175 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 T
OR 0.02
p 4.0e-13
N 219,872
Major Consortium StudyLarge GWAS
European
Parkinson disease
Nalls MA et al. “Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.” Lancet (london, England) 377(9766):641-9 (2011)
Allele T
OR 1.16
p 4.0e-12
N 17,352
Meta-analysisLarge GWAS
multi-ancestry
Lewy body dementia
Chia R et al. “Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.” Nature Genetics 53(3):294-303 (2021)
Allele T
OR 1.15
p 3.0e-9
N 6,618
Large GWAS
European
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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