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rs886044771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ChromosomeX
Position154379487
GeneEMD
is asnp
is mentioned by
dbSNPrs886044771
dbSNP (classic)rs886044771
ClinGenrs886044771
ebirs886044771
HLIrs886044771
Exacrs886044771
Gnomadrs886044771
Varsomers886044771
LitVarrs886044771
Maprs886044771
PheGenIrs886044771
Biobankrs886044771
1000 genomesrs886044771
hgdprs886044771
ensemblrs886044771
geneviewrs886044771
scholarrs886044771
googlers886044771
pharmgkbrs886044771
gwascentralrs886044771
openSNPrs886044771
23andMers886044771
SNPshotrs886044771
SNPdbers886044771
MSV3drs886044771
GWAS Ctlgrs886044771
Max Magnitude0
ClinVar
Risk rs886044771(A;A)
Alt rs886044771(A;A)
Reference Rs886044771(G;G)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 1
Variation info
Gene EMD
CLNDBN Emery-Dreifuss muscular dystrophy 1, X-linked
Reversed 0
HGVS NC_000023.10:g.153607847G>A
CLNSRC
CLNACC RCV000352211.1,