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.