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rs137854452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854452(C;T)
Make rs137854452(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position74056680
GeneELN
is asnp
is mentioned by
dbSNPrs137854452
ebirs137854452
HLIrs137854452
Exacrs137854452
Varsomers137854452
Maprs137854452
PheGenIrs137854452
hapmaprs137854452
1000 genomesrs137854452
hgdprs137854452
ensemblrs137854452
gopubmedrs137854452
geneviewrs137854452
scholarrs137854452
googlers137854452
pharmgkbrs137854452
gwascentralrs137854452
openSNPrs137854452
23andMers137854452
23andMe allrs137854452
SNP Nexus

SNPshotrs137854452
SNPdbers137854452
MSV3drs137854452
GWAS Ctlgrs137854452
Max Magnitude0
OMIM130160
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137854452(T;T)
Alt rs137854452(T;T)
Reference rs137854452(C;C)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73471010C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018206.28,