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rs137854454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854454(C;G)
Make rs137854454(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position74043901
GeneELN
is asnp
is mentioned by
dbSNPrs137854454
ebirs137854454
HLIrs137854454
Exacrs137854454
Varsomers137854454
Maprs137854454
PheGenIrs137854454
hapmaprs137854454
1000 genomesrs137854454
hgdprs137854454
ensemblrs137854454
gopubmedrs137854454
geneviewrs137854454
scholarrs137854454
googlers137854454
pharmgkbrs137854454
gwascentralrs137854454
openSNPrs137854454
23andMers137854454
23andMe allrs137854454
SNP Nexus

SNPshotrs137854454
SNPdbers137854454
MSV3drs137854454
GWAS Ctlgrs137854454
Max Magnitude0
OMIM130160
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137854454(G;G)
Alt rs137854454(G;G)
Reference rs137854454(C;C)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73458231C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018215.27,