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rs727503026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503026(-;-)
Make rs727503026(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position74048197
GeneELN
is asnp
is mentioned by
dbSNPrs727503026
dbSNP (classic)rs727503026
ClinGenrs727503026
ebirs727503026
HLIrs727503026
Exacrs727503026
Gnomadrs727503026
Varsomers727503026
LitVarrs727503026
Maprs727503026
PheGenIrs727503026
Biobankrs727503026
1000 genomesrs727503026
hgdprs727503026
ensemblrs727503026
geneviewrs727503026
scholarrs727503026
googlers727503026
pharmgkbrs727503026
gwascentralrs727503026
openSNPrs727503026
23andMers727503026
SNPshotrs727503026
SNPdbers727503026
MSV3drs727503026
GWAS Ctlgrs727503026
Max Magnitude0
ClinVar
Risk rs727503026(-;-)
Alt rs727503026(-;-)
Reference Rs727503026(G;G)
Significance Probable-Pathogenic
Disease Supravalvar aortic stenosis
Variation info
Gene ELN
CLNDBN Supravalvar aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73462527delG
CLNSRC
CLNACC RCV000150635.1,