rs10951154
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs10951154(C;T) |
| Make rs10951154(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 27095695 |
| Gene | HOTAIRM1, HOXA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10951154 |
| dbSNP (classic) | rs10951154 |
| ClinGen | rs10951154 |
| ebi | rs10951154 |
| HLI | rs10951154 |
| Exac | rs10951154 |
| Gnomad | rs10951154 |
| Varsome | rs10951154 |
| LitVar | rs10951154 |
| Map | rs10951154 |
| PheGenI | rs10951154 |
| Biobank | rs10951154 |
| 1000 genomes | rs10951154 |
| hgdp | rs10951154 |
| ensembl | rs10951154 |
| geneview | rs10951154 |
| scholar | rs10951154 |
| rs10951154 | |
| pharmgkb | rs10951154 |
| gwascentral | rs10951154 |
| openSNP | rs10951154 |
| 23andMe | rs10951154 |
| SNPshot | rs10951154 |
| SNPdbe | rs10951154 |
| MSV3d | rs10951154 |
| GWAS Ctlg | rs10951154 |
| GMAF | 0.1983 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
mentioned by gs240
[PMID 21980499
] An Integrated Meta-Analysis of Two Variants in HOXA1/HOXB1 and Their Effect on the Risk of Autism Spectrum Disorders
[PMID 22359339] Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents
[PMID 20678259] Candidate gene study of HOXB1 in autism spectrum disorder.
[PMID 25164089] The OSR1 rs12329305 Polymorphism Contributes to the Development of Congenital Malformations in Cases of Stillborn/Neonatal Death
| ClinVar | |
|---|---|
| Risk | rs10951154(T;T) |
| Alt | rs10951154(T;T) |
| Reference | Rs10951154(C;C) |
| Significance | Non-pathogenic |
| Disease | Microtia |
| Variation | info |
| Gene | HOXA1 HOTAIRM1 |
| CLNDBN | Microtia, hearing impairment, and cleft palate |
| Reversed | 0 |
| HGVS | NC_000007.13:g.27135314C>T |
| CLNSRC | |
| CLNACC | RCV000391664.1, |
