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rs727503782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503782(-;-)
Make rs727503782(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74060487
GeneELN, LOC107986809
is asnp
is mentioned by
dbSNPrs727503782
dbSNP (classic)rs727503782
ClinGenrs727503782
ebirs727503782
HLIrs727503782
Exacrs727503782
Gnomadrs727503782
Varsomers727503782
LitVarrs727503782
Maprs727503782
PheGenIrs727503782
Biobankrs727503782
1000 genomesrs727503782
hgdprs727503782
ensemblrs727503782
geneviewrs727503782
scholarrs727503782
googlers727503782
pharmgkbrs727503782
gwascentralrs727503782
openSNPrs727503782
23andMers727503782
SNPshotrs727503782
SNPdbers727503782
MSV3drs727503782
GWAS Ctlgrs727503782
Max Magnitude0
ClinVar
Risk rs727503782(-;-)
Alt rs727503782(-;-)
Reference Rs727503782(C;C)
Significance Probable-Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73474817delC
CLNSRC
CLNACC RCV000150642.1,