rs71180793
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 5 | Left ventricular noncompaction possible (likely?) |
| (C;C) | 0 | common/normal |
| Make rs71180793(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 228371745 |
| Gene | LOC101927401, OBSCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs71180793 |
| dbSNP (classic) | rs71180793 |
| ClinGen | rs71180793 |
| ebi | rs71180793 |
| HLI | rs71180793 |
| Exac | rs71180793 |
| Gnomad | rs71180793 |
| Varsome | rs71180793 |
| LitVar | rs71180793 |
| Map | rs71180793 |
| PheGenI | rs71180793 |
| Biobank | rs71180793 |
| 1000 genomes | rs71180793 |
| hgdp | rs71180793 |
| ensembl | rs71180793 |
| geneview | rs71180793 |
| scholar | rs71180793 |
| rs71180793 | |
| pharmgkb | rs71180793 |
| gwascentral | rs71180793 |
| openSNP | rs71180793 |
| 23andMe | rs71180793 |
| SNPshot | rs71180793 |
| SNPdbe | rs71180793 |
| MSV3d | rs71180793 |
| GWAS Ctlg | rs71180793 |
| Max Magnitude | 5 |
The rare minor allele of this OBSCN SNP is reported in 10.1016/j.jacc.2016.08.052 to be a variant leading to left ventricular noncompaction, acting in a dominant manner (i.e. in heterozygotes).
[PMID 27120077
] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.
