rs2222447
This is a regulatory region variant variant in the NAALADL2 gene.
▶Research that mentions this SNP (1)
▶No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorderAssociationN=2,192Sarah Curran et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A two-stage genome-wide association study (GWAS) of 315 autism spectrum disorder (ASD) cases and 1,115 controls in the Taiwanese Han population identified 7 SNPs with suggestive associations (p = 3.4-9.9 × 10⁻⁶), including variants in OR2M4 (rs10888329, rs6672981, rs4642918, rs4397683; OR = 0.55-0.56), STYK1 (rs16922945; OR = 1.86), and MNT (rs2447097, rs2447095; OR = 1.52-1.53). Fine-mapping identified associations in GLIS1 (rs12082358, rs12080993), NAALADL2 (rs3914502, rs2222447), and the GLIPR1/KRR1 region. Pathway analysis revealed olfactory and G protein-coupled receptor signaling as important for ASD etiology.
About NAALADL2
Predicted to act upstream of or within response to bacterium. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all NAALADL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…