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rs727503031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503031(-;-)
Make rs727503031(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74056273
GeneELN
is asnp
is mentioned by
dbSNPrs727503031
dbSNP (classic)rs727503031
ClinGenrs727503031
ebirs727503031
HLIrs727503031
Exacrs727503031
Gnomadrs727503031
Varsomers727503031
LitVarrs727503031
Maprs727503031
PheGenIrs727503031
Biobankrs727503031
1000 genomesrs727503031
hgdprs727503031
ensemblrs727503031
geneviewrs727503031
scholarrs727503031
googlers727503031
pharmgkbrs727503031
gwascentralrs727503031
openSNPrs727503031
23andMers727503031
SNPshotrs727503031
SNPdbers727503031
MSV3drs727503031
GWAS Ctlgrs727503031
Max Magnitude0
ClinVar
Risk rs727503031(-;-)
Alt rs727503031(-;-)
Reference Rs727503031(G;G)
Significance Probable-Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73470603delG
CLNSRC
CLNACC RCV000150640.1,