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rs727503030

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503030(A;A)
Make rs727503030(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74054770
GeneELN
is asnp
is mentioned by
dbSNPrs727503030
ebirs727503030
HLIrs727503030
Exacrs727503030
Varsomers727503030
Maprs727503030
PheGenIrs727503030
hapmaprs727503030
1000 genomesrs727503030
hgdprs727503030
ensemblrs727503030
gopubmedrs727503030
geneviewrs727503030
scholarrs727503030
googlers727503030
pharmgkbrs727503030
gwascentralrs727503030
openSNPrs727503030
23andMers727503030
23andMe allrs727503030
SNP Nexus

SNPshotrs727503030
SNPdbers727503030
MSV3drs727503030
GWAS Ctlgrs727503030
Max Magnitude0
ClinVar
Risk rs727503030(A;A)
Alt rs727503030(A;A)
Reference rs727503030(G;G)
Significance Pathogenic
Disease Supravalvar aortic stenosis not provided
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis not provided
Reversed 0
HGVS NC_000007.13:g.73469100G>A
CLNSRC
CLNACC RCV000150639.1, RCV000200273.2,