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rs727503033

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503033(A;A)
Make rs727503033(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74061138
GeneELN, LOC107986809
is asnp
is mentioned by
dbSNPrs727503033
dbSNP (classic)rs727503033
ClinGenrs727503033
ebirs727503033
HLIrs727503033
Exacrs727503033
Gnomadrs727503033
Varsomers727503033
LitVarrs727503033
Maprs727503033
PheGenIrs727503033
Biobankrs727503033
1000 genomesrs727503033
hgdprs727503033
ensemblrs727503033
geneviewrs727503033
scholarrs727503033
googlers727503033
pharmgkbrs727503033
gwascentralrs727503033
openSNPrs727503033
23andMers727503033
SNPshotrs727503033
SNPdbers727503033
MSV3drs727503033
GWAS Ctlgrs727503033
Max Magnitude0
ClinVar
Risk rs727503033(A;A) rs727503033(C;C)
Alt rs727503033(A;A) rs727503033(C;C)
Reference Rs727503033(T;T)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73475468T>A
CLNSRC
CLNACC RCV000150644.2,