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rs886044901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
ChromosomeX
Position154380944
GeneEMD
is asnp
is mentioned by
dbSNPrs886044901
dbSNP (classic)rs886044901
ClinGenrs886044901
ebirs886044901
HLIrs886044901
Exacrs886044901
Gnomadrs886044901
Varsomers886044901
LitVarrs886044901
Maprs886044901
PheGenIrs886044901
Biobankrs886044901
1000 genomesrs886044901
hgdprs886044901
ensemblrs886044901
geneviewrs886044901
scholarrs886044901
googlers886044901
pharmgkbrs886044901
gwascentralrs886044901
openSNPrs886044901
23andMers886044901
SNPshotrs886044901
SNPdbers886044901
MSV3drs886044901
GWAS Ctlgrs886044901
Max Magnitude0
ClinVar
Risk rs886044901(A;A)
Alt rs886044901(A;A)
Reference Rs886044901(C;C)
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.153609304C>A
CLNSRC
CLNACC RCV000283617.1,