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rs2071307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2071307(A;A)
Make rs2071307(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position74056384
GeneELN
is asnp
is mentioned by
dbSNPrs2071307
ebirs2071307
HLIrs2071307
Exacrs2071307
Varsomers2071307
Maprs2071307
PheGenIrs2071307
hapmaprs2071307
1000 genomesrs2071307
hgdprs2071307
ensemblrs2071307
gopubmedrs2071307
geneviewrs2071307
scholarrs2071307
googlers2071307
pharmgkbrs2071307
gwascentralrs2071307
openSNPrs2071307
23andMers2071307
23andMe allrs2071307
SNP Nexus

SNPshotrs2071307
SNPdbers2071307
MSV3drs2071307
GWAS Ctlgrs2071307
GMAF0.2553
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ELN
allele A
frequency 0.367
sift
HuRef 1103652613353
Disease Association Defects in ELN are the cause of supravalvular aortic stenosis (SVAS) (MIM:185500). SVAS is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.



[PMID 19282817] A Study on Polymorphisms of Elastin Gene in Chinese Han Patients With Isolated Systolic Hypertension


[PMID 20051886] Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma


[PMID 17672902OA-icon.png] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.


[PMID 19029017OA-icon.png] Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.


GET Evidence
ELN-G422S
aa_change Gly422Ser
aa_change_short G422S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.331846
summary



[PMID 23294012] Association of polymorphisms in the elastin gene with sporadic ruptured intracranial aneurysms and unruptured intracranial aneurysms in Chinese patients.


[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification


[PMID 25429546] ELN and FBN2 Gene Variants as Risk Factors for Two Sports-related Musculoskeletal Injuries


ClinVar
Risk rs2071307(A;A)
Alt rs2071307(A;A)
Reference rs2071307(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ELN
CLNDBN not specified
Reversed 0
HGVS NC_000007.13:g.73470714G>A
CLNSRC ClinVar
CLNACC RCV000036524.4,