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rs730880355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880355(-;A)
Make rs730880355(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74054732
GeneELN
is asnp
is mentioned by
dbSNPrs730880355
dbSNP (classic)rs730880355
ClinGenrs730880355
ebirs730880355
HLIrs730880355
Exacrs730880355
Gnomadrs730880355
Varsomers730880355
LitVarrs730880355
Maprs730880355
PheGenIrs730880355
Biobankrs730880355
1000 genomesrs730880355
hgdprs730880355
ensemblrs730880355
geneviewrs730880355
scholarrs730880355
googlers730880355
pharmgkbrs730880355
gwascentralrs730880355
openSNPrs730880355
23andMers730880355
SNPshotrs730880355
SNPdbers730880355
MSV3drs730880355
GWAS Ctlgrs730880355
Max Magnitude0
ClinVar
Risk rs730880355(A;A)
Alt rs730880355(A;A)
Reference Rs730880355(-;-)
Significance Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73469062dupA
CLNSRC
CLNACC RCV000156058.1,