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rs727503783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503783(-;-)
Make rs727503783(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74060498
GeneELN, LOC107986809
is asnp
is mentioned by
dbSNPrs727503783
dbSNP (classic)rs727503783
ClinGenrs727503783
ebirs727503783
HLIrs727503783
Exacrs727503783
Gnomadrs727503783
Varsomers727503783
LitVarrs727503783
Maprs727503783
PheGenIrs727503783
Biobankrs727503783
1000 genomesrs727503783
hgdprs727503783
ensemblrs727503783
geneviewrs727503783
scholarrs727503783
googlers727503783
pharmgkbrs727503783
gwascentralrs727503783
openSNPrs727503783
23andMers727503783
SNPshotrs727503783
SNPdbers727503783
MSV3drs727503783
GWAS Ctlgrs727503783
Max Magnitude0
ClinVar
Risk rs727503783(-;-)
Alt rs727503783(-;-)
Reference Rs727503783(G;G)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73474828delG
CLNSRC
CLNACC RCV000150643.1,