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rs398123157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an Emery-Dreifuss Muscular Dystrophy mutation
(T;T) 6.4 Emery-Dreifuss Muscular Dystrophy
ReferenceGRCh38 38.1/141
ChromosomeX
Position154380323
GeneEMD
is asnp
is mentioned by
dbSNPrs398123157
dbSNP (classic)rs398123157
ClinGenrs398123157
ebirs398123157
HLIrs398123157
Exacrs398123157
Gnomadrs398123157
Varsomers398123157
LitVarrs398123157
Maprs398123157
PheGenIrs398123157
Biobankrs398123157
1000 genomesrs398123157
hgdprs398123157
ensemblrs398123157
geneviewrs398123157
scholarrs398123157
googlers398123157
pharmgkbrs398123157
gwascentralrs398123157
openSNPrs398123157
23andMers398123157
SNPshotrs398123157
SNPdbers398123157
MSV3drs398123157
GWAS Ctlgrs398123157
Max Magnitude6.4
ClinVar
Risk rs398123157(A;A) Rs398123157(T;T)
Alt rs398123157(A;A) Rs398123157(T;T)
Reference Rs398123157(C;C)
Significance Pathogenic
Disease not specified not provided
Variation info
Gene EMD
CLNDBN not specified not provided
Reversed 0
HGVS NC_000023.10:g.153608683C>A; NC_000023.10:g.153608683C>T
CLNSRC ClinVar Emory University
CLNACC RCV000485703.1, RCV000078131.4,