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rs727503028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs727503028(-;G)
Make rs727503028(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74051812
GeneELN
is asnp
is mentioned by
dbSNPrs727503028
dbSNP (classic)rs727503028
ClinGenrs727503028
ebirs727503028
HLIrs727503028
Exacrs727503028
Gnomadrs727503028
Varsomers727503028
LitVarrs727503028
Maprs727503028
PheGenIrs727503028
Biobankrs727503028
1000 genomesrs727503028
hgdprs727503028
ensemblrs727503028
geneviewrs727503028
scholarrs727503028
googlers727503028
pharmgkbrs727503028
gwascentralrs727503028
openSNPrs727503028
23andMers727503028
SNPshotrs727503028
SNPdbers727503028
MSV3drs727503028
GWAS Ctlgrs727503028
Max Magnitude0
ClinVar
Risk rs727503028(G;G)
Alt rs727503028(G;G)
Reference Rs727503028(-;-)
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.73466142dupG
CLNSRC
CLNACC RCV000150637.1, RCV000199371.1,