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rs727503022

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727503022(-;-)
Make rs727503022(-;C)
Make rs727503022(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74028230
GeneELN
is asnp
is mentioned by
dbSNPrs727503022
ebirs727503022
HLIrs727503022
Exacrs727503022
Varsomers727503022
Maprs727503022
PheGenIrs727503022
hapmaprs727503022
1000 genomesrs727503022
hgdprs727503022
ensemblrs727503022
gopubmedrs727503022
geneviewrs727503022
scholarrs727503022
googlers727503022
pharmgkbrs727503022
gwascentralrs727503022
openSNPrs727503022
23andMers727503022
23andMe allrs727503022
SNP Nexus

SNPshotrs727503022
SNPdbers727503022
MSV3drs727503022
GWAS Ctlgrs727503022
Max Magnitude0
ClinVar
Risk rs727503022(C;C)
Alt rs727503022(C;C)
Reference rs727503022(;)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73442560dupC
CLNSRC
CLNACC RCV000150631.1,