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rs727503024

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503024(-;-)
Make rs727503024(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74043886
GeneELN
is asnp
is mentioned by
dbSNPrs727503024
dbSNP (classic)rs727503024
ClinGenrs727503024
ebirs727503024
HLIrs727503024
Exacrs727503024
Gnomadrs727503024
Varsomers727503024
LitVarrs727503024
Maprs727503024
PheGenIrs727503024
Biobankrs727503024
1000 genomesrs727503024
hgdprs727503024
ensemblrs727503024
geneviewrs727503024
scholarrs727503024
googlers727503024
pharmgkbrs727503024
gwascentralrs727503024
openSNPrs727503024
23andMers727503024
SNPshotrs727503024
SNPdbers727503024
MSV3drs727503024
GWAS Ctlgrs727503024
Max Magnitude0
ClinVar
Risk rs727503024(-;-)
Alt rs727503024(-;-)
Reference Rs727503024(G;G)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73458216delG
CLNSRC
CLNACC RCV000150633.1,