rs727504581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504581(-;-)
Make rs727504581(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74046732
GeneELN
is asnp
is mentioned by
dbSNPrs727504581
dbSNP (old)rs727504581
ClinGenrs727504581
ebirs727504581
HLIrs727504581
Exacrs727504581
Varsomers727504581
Maprs727504581
PheGenIrs727504581
Biobankrs727504581
1000 genomesrs727504581
hgdprs727504581
ensemblrs727504581
gopubmedrs727504581
geneviewrs727504581
scholarrs727504581
googlers727504581
pharmgkbrs727504581
gwascentralrs727504581
openSNPrs727504581
23andMers727504581
23andMe allrs727504581
SNP Nexus

SNPshotrs727504581
SNPdbers727504581
MSV3drs727504581
GWAS Ctlgrs727504581
Max Magnitude0
ClinVar
Risk rs727504581(-;-)
Alt rs727504581(-;-)
Reference Rs727504581(C;C)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73461062delC
CLNSRC
CLNACC RCV000155754.1,