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rs41511151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41511151(A;A)
Make rs41511151(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position74068657
GeneELN
is asnp
is mentioned by
dbSNPrs41511151
dbSNP (classic)rs41511151
ClinGenrs41511151
ebirs41511151
HLIrs41511151
Exacrs41511151
Gnomadrs41511151
Varsomers41511151
LitVarrs41511151
Maprs41511151
PheGenIrs41511151
Biobankrs41511151
1000 genomesrs41511151
hgdprs41511151
ensemblrs41511151
geneviewrs41511151
scholarrs41511151
googlers41511151
pharmgkbrs41511151
gwascentralrs41511151
openSNPrs41511151
23andMers41511151
23andMe allrs41511151
SNPshotrs41511151
SNPdbers41511151
MSV3drs41511151
GWAS Ctlgrs41511151
Max Magnitude0

[PMID 28146470OA-icon.png] Rare and low-frequency coding variants alter human adult height.


ClinVar
Risk rs41511151(A;A)
Alt rs41511151(A;A)
Reference Rs41511151(G;G)
Significance Probable-non-pathogenic
Disease not specified Cutis laxa Supravalvular aortic stenosis
Variation info
Gene ELN
CLNDBN not specified Cutis laxa, autosomal dominant Supravalvular aortic stenosis
Reversed 0
HGVS NC_000007.13:g.73482987G>A
CLNSRC
CLNACC RCV000036527.3, RCV000323541.1, RCV000361922.1,