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rs1858830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 2x risk of autism
(C;G) 1.6x increased autism risk
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position116672385
GeneMET
is asnp
is mentioned by
dbSNPrs1858830
ebirs1858830
HLIrs1858830
Exacrs1858830
Varsomers1858830
Maprs1858830
PheGenIrs1858830
hapmaprs1858830
1000 genomesrs1858830
hgdprs1858830
ensemblrs1858830
gopubmedrs1858830
geneviewrs1858830
scholarrs1858830
googlers1858830
pharmgkbrs1858830
gwascentralrs1858830
openSNPrs1858830
23andMers1858830
23andMe allrs1858830
SNP Nexus

SNPshotrs1858830
SNPdbers1858830
MSV3drs1858830
GWAS Ctlgrs1858830
GMAF0.4977
Max Magnitude2
rs1858830, located in promoter of the MET gene, has been linked to a 2x increase in the risk of autism based on a study of ~700 families.[PMID 17053076OA-icon.png]

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 19002214OA-icon.png] 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 19360663OA-icon.png] 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

OMIM611015
DescAUTISM, SUSCEPTIBILITY TO, 9; AUTS9
Variant
Relatedalso

[PMID 19681062] Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with Autistic disorder

OMIM164860
Desc
Variant0011
Relatedalso
[PMID 22110649OA-icon.png] Replication of the Association of a MET Variant with Autism in a Chinese Han Population

[PMID 17696172] Disruption of cerebral cortex MET signaling in autism spectrum disorder.

[PMID 19255034] Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions.

[PMID 20080979OA-icon.png] Association of genetic variation in the MET proto-oncogene with schizophrenia and general cognitive ability.

[PMID 20615438] Further evidence for the role of MET in autism susceptibility.


ClinVar
Risk rs1858830(G;G)
Alt rs1858830(G;G)
Reference rs1858830(C;C)
Significance Unknown
Disease Autism 9
Variation info
Gene MET
CLNDBN Autism 9
Reversed 0
HGVS NC_000007.13:g.116312439C\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000014905.3,