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rs727504433

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504433(-;-)
Make rs727504433(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74056328
GeneELN
is asnp
is mentioned by
dbSNPrs727504433
dbSNP (classic)rs727504433
ClinGenrs727504433
ebirs727504433
HLIrs727504433
Exacrs727504433
Gnomadrs727504433
Varsomers727504433
LitVarrs727504433
Maprs727504433
PheGenIrs727504433
Biobankrs727504433
1000 genomesrs727504433
hgdprs727504433
ensemblrs727504433
geneviewrs727504433
scholarrs727504433
googlers727504433
pharmgkbrs727504433
gwascentralrs727504433
openSNPrs727504433
23andMers727504433
SNPshotrs727504433
SNPdbers727504433
MSV3drs727504433
GWAS Ctlgrs727504433
Max Magnitude0
ClinVar
Risk rs727504433(-;-)
Alt rs727504433(-;-)
Reference Rs727504433(G;G)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73470658delG
CLNSRC
CLNACC RCV000154672.1,