rs1861973
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs1861973(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 155461450 |
| Gene | EN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1861973 |
| dbSNP (classic) | rs1861973 |
| ClinGen | rs1861973 |
| ebi | rs1861973 |
| HLI | rs1861973 |
| Exac | rs1861973 |
| Gnomad | rs1861973 |
| Varsome | rs1861973 |
| LitVar | rs1861973 |
| Map | rs1861973 |
| PheGenI | rs1861973 |
| Biobank | rs1861973 |
| 1000 genomes | rs1861973 |
| hgdp | rs1861973 |
| ensembl | rs1861973 |
| geneview | rs1861973 |
| scholar | rs1861973 |
| rs1861973 | |
| pharmgkb | rs1861973 |
| gwascentral | rs1861973 |
| openSNP | rs1861973 |
| 23andMe | rs1861973 |
| SNPshot | rs1861973 |
| SNPdbe | rs1861973 |
| MSV3d | rs1861973 |
| GWAS Ctlg | rs1861973 |
| GMAF | 0.2181 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
nature The inheritance of the AC haplotype of rs1861972 – rs1861973, 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)
[PMID 20523082] Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population
[PMID 15024396] Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.
[PMID 16252243
] 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 19615670] 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 22180456] 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, |
