rs1800956
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs1800956(C;G) |
| Make rs1800956(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 127824342 |
| Gene | ENG, LOC105379841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800956 |
| dbSNP (classic) | rs1800956 |
| ClinGen | rs1800956 |
| ebi | rs1800956 |
| HLI | rs1800956 |
| Exac | rs1800956 |
| Gnomad | rs1800956 |
| Varsome | rs1800956 |
| LitVar | rs1800956 |
| Map | rs1800956 |
| PheGenI | rs1800956 |
| Biobank | rs1800956 |
| 1000 genomes | rs1800956 |
| hgdp | rs1800956 |
| ensembl | rs1800956 |
| geneview | rs1800956 |
| scholar | rs1800956 |
| rs1800956 | |
| pharmgkb | rs1800956 |
| gwascentral | rs1800956 |
| openSNP | rs1800956 |
| 23andMe | rs1800956 |
| SNPshot | rs1800956 |
| SNPdbe | rs1800956 |
| MSV3d | rs1800956 |
| GWAS Ctlg | rs1800956 |
| GMAF | 0.02893 |
| Max Magnitude | 0 |
[PMID 18440621] rs1800956 (G/C transversion with D366H substitution) of endoglin may play an important role in the pathogenesis of intracranial aneurysms in the Korean population.
[PMID 19299629
] Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
| ClinVar | |
|---|---|
| Risk | rs1800956(G;G) rs1800956(T;T) |
| Alt | rs1800956(G;G) rs1800956(T;T) |
| Reference | Rs1800956(C;C) |
| Significance | Other |
| Disease | not specified Osler hemorrhagic telangiectasia syndrome Juvenile Polyposis |
| Variation | info |
| Gene | ENG |
| CLNDBN | not specified Osler hemorrhagic telangiectasia syndrome Juvenile Polyposis |
| Reversed | 0 |
| HGVS | NC_000009.11:g.130586621C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000150650.3, RCV000309805.1, RCV000362138.1, |
[PMID 30121816] Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population.
