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rs727503029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503029(A;A)
Make rs727503029(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74054715
GeneELN
is asnp
is mentioned by
dbSNPrs727503029
dbSNP (classic)rs727503029
ClinGenrs727503029
ebirs727503029
HLIrs727503029
Exacrs727503029
Gnomadrs727503029
Varsomers727503029
LitVarrs727503029
Maprs727503029
PheGenIrs727503029
Biobankrs727503029
1000 genomesrs727503029
hgdprs727503029
ensemblrs727503029
geneviewrs727503029
scholarrs727503029
googlers727503029
pharmgkbrs727503029
gwascentralrs727503029
openSNPrs727503029
23andMers727503029
SNPshotrs727503029
SNPdbers727503029
MSV3drs727503029
GWAS Ctlgrs727503029
Max Magnitude0
ClinVar
Risk rs727503029(A;A)
Alt rs727503029(A;A)
Reference Rs727503029(G;G)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73469045G>A
CLNSRC
CLNACC RCV000150638.1,