Rs1858830
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1858830 |
| hapmap | rs1858830 |
| hgdp | rs1858830 |
| ensembl | rs1858830 |
| gopubmed | rs1858830 |
| scholar | rs1858830 |
| rs1858830 | |
| pharmgkb | rs1858830 |
| hgvbaseg2p | rs1858830 |
| medrefsnp | rs1858830 |
| 23andMe | rs1858830 |
| SNP Nexus |
| Gene | MET |
| Chromosome | 7 |
| Orientation | plus |
| Position | 116099674 |
| Genotype | Effect |
|---|---|
| rs1858830(C;C) | 2.2x increased autism risk |
| rs1858830(C;G) | 1.6x increased autism risk |
| rs1858830(G;G) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1858830(C;C) | 22 | 2x risk of autism |
| Rs1858830(C;G) | 1.6x increased autism risk | |
| Rs1858830(G;G) | 00 | normal |
From OMIM 164860:
"In case-control analysis, the relative risk for autism was 2.27 for the CC genotype and 1.67 for the GC genotype compared to the GG genotype."
[PMID 19002214] The association of rs1858830 in the MET gene with autism failed to replicate in 325 multiplex families and 10 trios of the International Molecular Genetic Study of Autism Consortium (IMGSAC), although another MET SNP did associate with autism (rs38845)
[PMID 19360663] Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder
[PMID 19548256] Association of MET with social and communication phenotypes in individuals with autism spectrum disorder
[PMID 19681062] Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with Autistic disorder
