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rs727503023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503023(-;-)
Make rs727503023(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74035412
GeneELN
is asnp
is mentioned by
dbSNPrs727503023
dbSNP (classic)rs727503023
ClinGenrs727503023
ebirs727503023
HLIrs727503023
Exacrs727503023
Gnomadrs727503023
Varsomers727503023
LitVarrs727503023
Maprs727503023
PheGenIrs727503023
Biobankrs727503023
1000 genomesrs727503023
hgdprs727503023
ensemblrs727503023
geneviewrs727503023
scholarrs727503023
googlers727503023
pharmgkbrs727503023
gwascentralrs727503023
openSNPrs727503023
23andMers727503023
SNPshotrs727503023
SNPdbers727503023
MSV3drs727503023
GWAS Ctlgrs727503023
Max Magnitude0
ClinVar
Risk rs727503023(-;-)
Alt rs727503023(-;-)
Reference Rs727503023(C;C)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73449742delC
CLNSRC
CLNACC RCV000150632.1,