rs1904589
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1904589(C;C) |
| Make rs1904589(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 70435683 |
| Gene | NODAL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1904589 |
| dbSNP (classic) | rs1904589 |
| ClinGen | rs1904589 |
| ebi | rs1904589 |
| HLI | rs1904589 |
| Exac | rs1904589 |
| Gnomad | rs1904589 |
| Varsome | rs1904589 |
| LitVar | rs1904589 |
| Map | rs1904589 |
| PheGenI | rs1904589 |
| Biobank | rs1904589 |
| 1000 genomes | rs1904589 |
| hgdp | rs1904589 |
| ensembl | rs1904589 |
| geneview | rs1904589 |
| scholar | rs1904589 |
| rs1904589 | |
| pharmgkb | rs1904589 |
| gwascentral | rs1904589 |
| openSNP | rs1904589 |
| 23andMe | rs1904589 |
| SNPshot | rs1904589 |
| SNPdbe | rs1904589 |
| MSV3d | rs1904589 |
| GWAS Ctlg | rs1904589 |
| GMAF | 0.3434 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23076529] Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
| ClinVar | |
|---|---|
| Risk | rs1904589(C;C) |
| Alt | rs1904589(C;C) |
| Reference | Rs1904589(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Holoprosencephaly Heterotaxy syndrome |
| Variation | info |
| Gene | NODAL |
| CLNDBN | not specified Holoprosencephaly Heterotaxy syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.72195439T>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000081930.5, RCV000348733.1, RCV000400701.1, |
[PMID 25765999] Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia
