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rs5351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5351(A;G)
Make rs5351(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position77901178
GeneEDNRB, EDNRB-AS1
is asnp
is mentioned by
dbSNPrs5351
dbSNP (classic)rs5351
ClinGenrs5351
ebirs5351
HLIrs5351
Exacrs5351
Gnomadrs5351
Varsomers5351
LitVarrs5351
Maprs5351
PheGenIrs5351
Biobankrs5351
1000 genomesrs5351
hgdprs5351
ensemblrs5351
geneviewrs5351
scholarrs5351
googlers5351
pharmgkbrs5351
gwascentralrs5351
openSNPrs5351
23andMers5351
SNPshotrs5351
SNPdbers5351
MSV3drs5351
GWAS Ctlgrs5351
GMAF0.4509
Max Magnitude0
? (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 15500681OA-icon.png] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.


[PMID 18454203OA-icon.png] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.


[PMID 25799405OA-icon.png] 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.