rs6599389
This is a regulatory region variant variant in the TMEM175 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Parkinson disease
▶Research that mentions this SNP (1)
▶SNCA rs356219 variant increases risk of sporadic Parkinson's disease in ethnic ChineseAssociationN=145,932Nan‐Nan Li et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This is a German dissertation containing two peer-reviewed association studies on Parkinson's disease genetics. The first study found EIF4G1 is neither a strong nor common PD risk factor in European cohorts (2146 patients), with the p.Arg1205His variant showing no significant association (OR=1.3, p=0.50) in Icelandic population. The second study demonstrated heterozygous PARK2 CNV carriers have increased PD risk in Iceland (1415 cases vs 40474 controls, OR=1.7, p=0.03), supported by meta-analysis.
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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