rs5351
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs5351(A;G) |
Make rs5351(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 77901178 |
Gene | EDNRB, EDNRB-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs5351 |
dbSNP (classic) | rs5351 |
ClinGen | rs5351 |
ebi | rs5351 |
HLI | rs5351 |
Exac | rs5351 |
Gnomad | rs5351 |
Varsome | rs5351 |
LitVar | rs5351 |
Map | rs5351 |
PheGenI | rs5351 |
Biobank | rs5351 |
1000 genomes | rs5351 |
hgdp | rs5351 |
ensembl | rs5351 |
geneview | rs5351 |
scholar | rs5351 |
rs5351 | |
pharmgkb | rs5351 |
gwascentral | rs5351 |
openSNP | rs5351 |
23andMe | rs5351 |
SNPshot | rs5351 |
SNPdbe | rs5351 |
MSV3d | rs5351 |
GWAS Ctlg | rs5351 |
GMAF | 0.4509 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 17525706] In 630 patients with essential hypertension (EHT) among males significant differences in rs5351 and rs5333 influencing atherosclerosis
[PMID 15500681] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
[PMID 18454203] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
[PMID 25799405] Polymorphisms in Endothelin System Genes, Arsenic Levels and Obesity Risk
ClinVar | |
---|---|
Risk | rs5351(C;C) rs5351(G;G) |
Alt | rs5351(C;C) rs5351(G;G) |
Reference | Rs5351(A;A) |
Significance | Non-pathogenic |
Disease | not specified Waardenburg syndrome Hirschsprung Disease |
Variation | info |
Gene | EDNRB EDNRB-AS1 |
CLNDBN | not specified Waardenburg syndrome Hirschsprung Disease, Recessive |
Reversed | 1 |
HGVS | NC_000013.10:g.78475313T>C |
CLNSRC | |
CLNACC | RCV000219248.2, RCV000263642.1, RCV000321151.1, |
[PMID 29097630] Effects of Endothelin-related Gene Polymorphisms and Aerobic Exercise Habit on Age-Related Arterial Stiffening: A 10-year Longitudinal Study.