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rs727504434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504434(A;G)
Make rs727504434(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74051922
GeneELN
is asnp
is mentioned by
dbSNPrs727504434
dbSNP (classic)rs727504434
ClinGenrs727504434
ebirs727504434
HLIrs727504434
Exacrs727504434
Gnomadrs727504434
Varsomers727504434
LitVarrs727504434
Maprs727504434
PheGenIrs727504434
Biobankrs727504434
1000 genomesrs727504434
hgdprs727504434
ensemblrs727504434
geneviewrs727504434
scholarrs727504434
googlers727504434
pharmgkbrs727504434
gwascentralrs727504434
openSNPrs727504434
23andMers727504434
SNPshotrs727504434
SNPdbers727504434
MSV3drs727504434
GWAS Ctlgrs727504434
Max Magnitude0
ClinVar
Risk rs727504434(C;C) rs727504434(G;G)
Alt rs727504434(C;C) rs727504434(G;G)
Reference Rs727504434(A;A)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73466252A>G
CLNSRC
CLNACC RCV000154673.1,