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rs727503034

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503034(G;T)
Make rs727503034(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74063224
GeneELN
is asnp
is mentioned by
dbSNPrs727503034
ebirs727503034
HLIrs727503034
Exacrs727503034
Varsomers727503034
Maprs727503034
PheGenIrs727503034
hapmaprs727503034
1000 genomesrs727503034
hgdprs727503034
ensemblrs727503034
gopubmedrs727503034
geneviewrs727503034
scholarrs727503034
googlers727503034
pharmgkbrs727503034
gwascentralrs727503034
openSNPrs727503034
23andMers727503034
23andMe allrs727503034
SNP Nexus

SNPshotrs727503034
SNPdbers727503034
MSV3drs727503034
GWAS Ctlgrs727503034
Max Magnitude0
ClinVar
Risk rs727503034(T;T)
Alt rs727503034(T;T)
Reference rs727503034(G;G)
Significance Probable-Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73477554G>T
CLNSRC
CLNACC RCV000150645.1,