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

rs137854453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854453(C;T)
Make rs137854453(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position74060184
GeneELN
is asnp
is mentioned by
dbSNPrs137854453
ebirs137854453
HLIrs137854453
Exacrs137854453
Varsomers137854453
Maprs137854453
PheGenIrs137854453
hapmaprs137854453
1000 genomesrs137854453
hgdprs137854453
ensemblrs137854453
gopubmedrs137854453
geneviewrs137854453
scholarrs137854453
googlers137854453
pharmgkbrs137854453
gwascentralrs137854453
openSNPrs137854453
23andMers137854453
23andMe allrs137854453
SNP Nexus

SNPshotrs137854453
SNPdbers137854453
MSV3drs137854453
GWAS Ctlgrs137854453
Max Magnitude0
OMIM130160
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137854453(G,T;G,T)
Alt rs137854453(G,T;G,T)
Reference rs137854453(C;C)
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.73474514C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018207.27, RCV000198624.2,