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rs1861972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1861972(A;A)
Make rs1861972(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position155461298
GeneEN2
is asnp
is mentioned by
dbSNPrs1861972
ebirs1861972
HLIrs1861972
Exacrs1861972
Varsomers1861972
Maprs1861972
PheGenIrs1861972
hapmaprs1861972
1000 genomesrs1861972
hgdprs1861972
ensemblrs1861972
gopubmedrs1861972
geneviewrs1861972
scholarrs1861972
googlers1861972
pharmgkbrs1861972
gwascentralrs1861972
openSNPrs1861972
23andMers1861972
23andMe allrs1861972
SNP Nexus

SNPshotrs1861972
SNPdbers1861972
MSV3drs1861972
GWAS Ctlgrs1861972
GMAF0.2181
Max Magnitude0
nature The inheritance of the AC haplotype of rs1861972rs1861973 in en2, the C allele of rs1811399 in npas2, and the C allele of rs1234747 may contribute to autism by affecting microRNA

[PMID 18424904] rs1861972(A) + rs1861973(C) haplotype assoc. with protective effect against autism in a study of 818 Han Chinese (184 diag. autistics, 225 unrelated volunteers, 409 randomly selected)

Neighborrs1861973
Distance152
OMIM611016
DescAUTISM, SUSCEPTIBILITY TO, 10; AUTS10
Variant
Relatedalso
OMIM131310
DescENGRAILED 2; EN2
Variant
Relatedalso

[PMID 19270442] Haplotype analysis of the engrailed-2 gene in young-onset Parkinson's disease


[PMID 20523082] Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population

OMIM131310
Desc
Variant0001
Relatedalso
[PMID 22829897OA-icon.png] Autism-Relevant Social Abnormalities and Cognitive Deficits in Engrailed-2 Knockout Mice


[PMID 15024396] Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.


[PMID 16252243OA-icon.png] Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus.


[PMID 17948868] Heterogeneous association between engrailed-2 and autism in the CPEA network.


[PMID 17948901] Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population.


[PMID 19615670OA-icon.png] Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2.


[PMID 20050924] Family-based studies indicate association of Engrailed 2 gene with autism in an Indian population.


[PMID 20678243OA-icon.png] Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk.


[PMID 22180456OA-icon.png] Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function.


[PMID 22739633] The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families


ClinVar
Risk rs1861972(A;A)
Alt rs1861972(A;A)
Reference rs1861972(G;G)
Significance Unknown
Disease Autism 10
Variation info
Gene EN2
CLNDBN Autism 10
Reversed 0
HGVS NC_000007.13:g.155253993G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018110.4,