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rs727503027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503027(A;G)
Make rs727503027(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74051748
GeneELN
is asnp
is mentioned by
dbSNPrs727503027
dbSNP (classic)rs727503027
ClinGenrs727503027
ebirs727503027
HLIrs727503027
Exacrs727503027
Gnomadrs727503027
Varsomers727503027
LitVarrs727503027
Maprs727503027
PheGenIrs727503027
Biobankrs727503027
1000 genomesrs727503027
hgdprs727503027
ensemblrs727503027
geneviewrs727503027
scholarrs727503027
googlers727503027
pharmgkbrs727503027
gwascentralrs727503027
openSNPrs727503027
23andMers727503027
SNPshotrs727503027
SNPdbers727503027
MSV3drs727503027
GWAS Ctlgrs727503027
Max Magnitude0
ClinVar
Risk rs727503027(G;G)
Alt rs727503027(G;G)
Reference Rs727503027(A;A)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73466078A>G
CLNSRC
CLNACC RCV000150636.1,