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rs1861973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs1861973(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155461450
GeneEN2
is asnp
is mentioned by
dbSNPrs1861973
ebirs1861973
HLIrs1861973
Exacrs1861973
Varsomers1861973
Maprs1861973
PheGenIrs1861973
hapmaprs1861973
1000 genomesrs1861973
hgdprs1861973
ensemblrs1861973
gopubmedrs1861973
geneviewrs1861973
scholarrs1861973
googlers1861973
pharmgkbrs1861973
gwascentralrs1861973
openSNPrs1861973
23andMers1861973
23andMe allrs1861973
SNP Nexus

SNPshotrs1861973
SNPdbers1861973
MSV3drs1861973
GWAS Ctlgrs1861973
GMAF0.2181
Max Magnitude0
? (C;C) (C;T) (T;T) 28

nature The inheritance of the AC haplotype of rs1861972rs1861973, the C allele of rs1811399, 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)

Neighborrs1861972
Distance152
OMIM611016
DescAUTISM, SUSCEPTIBILITY TO, 10; AUTS10
Variant
Relatedalso
OMIM131310
DescENGRAILED 2; EN2
Variant
Relatedalso


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


ClinVar
Risk rs1861973(C;C)
Alt rs1861973(C;C)
Reference rs1861973(T;T)
Significance Unknown
Disease Autism 10
Variation info
Gene EN2
CLNDBN Autism 10
Reversed 0
HGVS NC_000007.13:g.155254145T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018111.4,