Have questions? Visit https://www.reddit.com/r/SNPedia

rs8326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs8326(C;C)
Make rs8326(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position74069359
GeneELN
is asnp
is mentioned by
dbSNPrs8326
dbSNP (old)rs8326
ClinGenrs8326
ebirs8326
HLIrs8326
Exacrs8326
Gnomadrs8326
Varsomers8326
Maprs8326
PheGenIrs8326
Biobankrs8326
1000 genomesrs8326
hgdprs8326
ensemblrs8326
gopubmedrs8326
geneviewrs8326
scholarrs8326
googlers8326
pharmgkbrs8326
gwascentralrs8326
openSNPrs8326
23andMers8326
23andMe allrs8326
SNP Nexus

SNPshotrs8326
SNPdbers8326
MSV3drs8326
GWAS Ctlgrs8326
GMAF0.1974
Max Magnitude0

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

OMIM105800
Desc
Variant
Relatedalso
ClinVar
Risk rs8326(A;A) rs8326(C;C) rs8326(T;T)
Alt rs8326(A;A) rs8326(C;C) rs8326(T;T)
Reference Rs8326(G;G)
Significance Non-pathogenic
Disease Supravalvular aortic stenosis Cutis laxa
Variation info
Gene ELN
CLNDBN Supravalvular aortic stenosis Cutis laxa, autosomal dominant
Reversed 0
HGVS NC_000007.13:g.73483689G>C
CLNSRC
CLNACC RCV000285101.1, RCV000407475.1,