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rs727503035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503035(A;A)
Make rs727503035(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74063370
GeneELN, LOC107986809
is asnp
is mentioned by
dbSNPrs727503035
dbSNP (classic)rs727503035
ClinGenrs727503035
ebirs727503035
HLIrs727503035
Exacrs727503035
Gnomadrs727503035
Varsomers727503035
LitVarrs727503035
Maprs727503035
PheGenIrs727503035
Biobankrs727503035
1000 genomesrs727503035
hgdprs727503035
ensemblrs727503035
geneviewrs727503035
scholarrs727503035
googlers727503035
pharmgkbrs727503035
gwascentralrs727503035
openSNPrs727503035
23andMers727503035
SNPshotrs727503035
SNPdbers727503035
MSV3drs727503035
GWAS Ctlgrs727503035
Max Magnitude0
ClinVar
Risk rs727503035(A;A)
Alt rs727503035(A;A)
Reference Rs727503035(G;G)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73477700G>A
CLNSRC
CLNACC RCV000150646.1,