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rs137854455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854455(A;T)
Make rs137854455(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position74045278
GeneELN
is asnp
is mentioned by
dbSNPrs137854455
ebirs137854455
HLIrs137854455
Exacrs137854455
Varsomers137854455
Maprs137854455
PheGenIrs137854455
hapmaprs137854455
1000 genomesrs137854455
hgdprs137854455
ensemblrs137854455
gopubmedrs137854455
geneviewrs137854455
scholarrs137854455
googlers137854455
pharmgkbrs137854455
gwascentralrs137854455
openSNPrs137854455
23andMers137854455
23andMe allrs137854455
SNP Nexus

SNPshotrs137854455
SNPdbers137854455
MSV3drs137854455
GWAS Ctlgrs137854455
Max Magnitude0
OMIM130160
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137854455(T;T)
Alt rs137854455(T;T)
Reference rs137854455(A;A)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73459608A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018216.27,