Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATGAAGAGAGCTACT;ATGAAGAGAGCTACT) 0 common in clinvar
(CTACTATGAAGAGAG;CTACTATGAAGAGAG) 0 common in clinvar
Make rs398123156(-;-)
Make rs398123156(-;ATGAAGAGAGCTACT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154380252
GeneEMD
is asnp
is mentioned by
dbSNPrs398123156
ebirs398123156
HLIrs398123156
Exacrs398123156
Varsomers398123156
Maprs398123156
PheGenIrs398123156
hapmaprs398123156
1000 genomesrs398123156
hgdprs398123156
ensemblrs398123156
gopubmedrs398123156
geneviewrs398123156
scholarrs398123156
googlers398123156
pharmgkbrs398123156
gwascentralrs398123156
openSNPrs398123156
23andMers398123156
23andMe allrs398123156
SNP Nexus

SNPshotrs398123156
SNPdbers398123156
MSV3drs398123156
GWAS Ctlgrs398123156
Max Magnitude0
ClinVar
Risk rs398123156(;)
Alt rs398123156(;)
Reference rs398123156(CTACTATGAAGAGAG;CTACTATGAAGAGAG)
Significance Probable-Pathogenic
Disease not provided Emery-Dreifuss muscular dystrophy 1
Variation info
Gene EMD
CLNDBN not provided Emery-Dreifuss muscular dystrophy 1, X-linked
Reversed 0
HGVS NC_000023.10:g.153608612_153608626delATGAAGAGAGCTACT
CLNSRC HGMD
CLNACC RCV000078130.3, RCV000178044.1,