rs34208922

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs34208922(-;A)

Make rs34208922(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

74069201

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs34208922
dbSNP (classic)	rs34208922
ClinGen	rs34208922
ebi	rs34208922
HLI	rs34208922
Exac	rs34208922
Gnomad	rs34208922
Varsome	rs34208922
LitVar	rs34208922
Map	rs34208922
PheGenI	rs34208922
Biobank	rs34208922
1000 genomes	rs34208922
hgdp	rs34208922
ensembl	rs34208922
geneview	rs34208922
scholar	rs34208922
google	rs34208922
pharmgkb	rs34208922
gwascentral	rs34208922
openSNP	rs34208922
23andMe	rs34208922
SNPshot	rs34208922
SNPdbe	rs34208922
MSV3d	rs34208922
GWAS Ctlg	rs34208922

GMAF

0.2773

Max Magnitude

0

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

[PMID 20694560] Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans

ClinVar
Risk	rs34208922(A;A)
Alt	rs34208922(A;A)
Reference	Rs34208922(-;-)
Significance	Non-pathogenic
Disease	Cutis laxa Supravalvular aortic stenosis
Variation	info
Gene	ELN
CLNDBN	Cutis laxa, autosomal dominant Supravalvular aortic stenosis
Reversed	0
HGVS	NC_000007.13:g.73483531_73483532insA
CLNSRC
CLNACC	RCV000265718.1, RCV000358024.1,