rs619002
This is a intron variant variant in the EHD3 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.
platelet count
▶Research that mentions this SNP (1)
▶A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorderAssociationN=2,054Cuijuan Shi et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This candidate gene study tested 16 GWAS-identified MDD susceptibility genes in 1,062 Chinese Han MDD patients and 992 healthy controls. EHD3 and FREM3 showed combined effects on MDD risk. Conditional analysis revealed rs619002(G)-rs1112714(T) combination (OR≈0, P=4.02×10⁻⁶) and rs644926(A)-rs11938298(G) combination (OR=0.12, P=3.85×10⁻⁶) were associated with significantly reduced MDD risk. FREM3 SNP rs13130123 was strongly associated with insomnia early symptoms in carriers of EHD3 minor alleles (P=0.001 and P=0.00077).
About EHD3
Predicted to enable nucleic acid binding activity. Involved in several processes, including cytosolic transport; endocytic recycling; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all EHD3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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