rs372004083
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs372004083(C;C) |
| Make rs372004083(C;T) |
| Make rs372004083(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 8 |
| Position | 11703278 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372004083 |
| dbSNP (classic) | rs372004083 |
| ClinGen | rs372004083 |
| ebi | rs372004083 |
| HLI | rs372004083 |
| Exac | rs372004083 |
| Gnomad | rs372004083 |
| Varsome | rs372004083 |
| LitVar | rs372004083 |
| Map | rs372004083 |
| PheGenI | rs372004083 |
| Biobank | rs372004083 |
| 1000 genomes | rs372004083 |
| hgdp | rs372004083 |
| ensembl | rs372004083 |
| geneview | rs372004083 |
| scholar | rs372004083 |
| rs372004083 | |
| pharmgkb | rs372004083 |
| gwascentral | rs372004083 |
| openSNP | rs372004083 |
| 23andMe | rs372004083 |
| SNPshot | rs372004083 |
| SNPdbe | rs372004083 |
| MSV3d | rs372004083 |
| GWAS Ctlg | rs372004083 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs372004083(C;C) |
| Alt | rs372004083(C;C) |
| Reference | rs372004083(T;T) |
| Significance | Unknown |
| Disease | Atrioventricular septal defect 4 |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Atrioventricular septal defect 4 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11560787T>C |
| CLNSRC | |
| CLNACC | RCV000470294.1, |
