Trait
SNPs associated with Autism spectrum disorder
21 genetic variants across 8 genes have been associated with Autism spectrum disorder in published research. Key genes include CBS, COMT, ITIH3.
Associated variants21 total
| rsid | Gene | Effect | Evidence |
|---|---|---|---|
| rs53576 | OXTR | Altered social deficit severity in autism spectrum disorder | Meta-analysis |
| rs2228570 | VDR | Increased autism spectrum disorder risk | Meta-analysis |
| rs731236 | VDR | Increased autism spectrum disorder risk | Meta-analysis |
| rs325485 | — | GWAS association (p=4.0e-13) | Large GWAS |
| rs10141157 | — | GWAS association (p=1.0e-09) | Large GWAS |
| rs1000177 | — | GWAS association (p=2.0e-09) | Large GWAS |
| rs17693963 | — | GWAS association (p=5.0e-09) | Large GWAS |
| rs7403809 | — | GWAS association (p=6.0e-09) | Large GWAS |
| rs4481150 | ITIH3 | GWAS association (p=9.0e-09) | Large GWAS |
| rs1021363 | — | GWAS association (p=1.0e-08) | Large GWAS |
| rs10099100 | — | GWAS association (p=1.0e-08) | Large GWAS |
| rs77691144 | — | GWAS association (p=2.0e-08) | Large GWAS |
| rs8178395 | LPO | GWAS association (p=2.0e-08) | Large GWAS |
| rs111931861 | KMT2E | GWAS association (p=3.0e-08) | Large GWAS |
| rs12402629 | NEGR1 | GWAS association (p=4.0e-08) | Large GWAS |
| rs71190156 | — | GWAS association (p=4.0e-08) | Large GWAS |
| rs201910565 | — | GWAS association (p=4.0e-08) | Large GWAS |
| rs60527016 | — | GWAS association (p=5.0e-08) | Large GWAS |
| rs2073149 | — | GWAS association (p=9.0e-09) | Small GWAS |
| rs769224 | COMT | Increased autism spectrum disorder susceptibility | Candidate gene study |
| rs234715 | CBS | Increased risk when periconceptional vitamins absent | Preliminary work |
Associations aggregated from the GWAS Catalog and curated literature. Informational only — not medical advice.