Have questions? Visit https://www.reddit.com/r/SNPedia

rs727504419

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504419(C;C)
Make rs727504419(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74051841
GeneELN
is asnp
is mentioned by
dbSNPrs727504419
ebirs727504419
HLIrs727504419
Exacrs727504419
Varsomers727504419
Maprs727504419
PheGenIrs727504419
hapmaprs727504419
1000 genomesrs727504419
hgdprs727504419
ensemblrs727504419
gopubmedrs727504419
geneviewrs727504419
scholarrs727504419
googlers727504419
pharmgkbrs727504419
gwascentralrs727504419
openSNPrs727504419
23andMers727504419
23andMe allrs727504419
SNP Nexus

SNPshotrs727504419
SNPdbers727504419
MSV3drs727504419
GWAS Ctlgrs727504419
Max Magnitude0
ClinVar
Risk rs727504419(C;C)
Alt rs727504419(C;C)
Reference rs727504419(T;T)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73466171T>C
CLNSRC
CLNACC RCV000154614.1,