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rs267606782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606782(A;G)
Make rs267606782(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154379485
GeneEMD
is asnp
is mentioned by
dbSNPrs267606782
ebirs267606782
HLIrs267606782
Exacrs267606782
Varsomers267606782
Maprs267606782
PheGenIrs267606782
hapmaprs267606782
1000 genomesrs267606782
hgdprs267606782
ensemblrs267606782
gopubmedrs267606782
geneviewrs267606782
scholarrs267606782
googlers267606782
pharmgkbrs267606782
gwascentralrs267606782
openSNPrs267606782
23andMers267606782
23andMe allrs267606782
SNP Nexus

SNPshotrs267606782
SNPdbers267606782
MSV3drs267606782
GWAS Ctlgrs267606782
Max Magnitude0
ClinVar
Risk rs267606782(G;G)
Alt rs267606782(G;G)
Reference rs267606782(A;A)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy
Variation info
Gene EMD
CLNDBN Emery-Dreifuss muscular dystrophy, X-linked
Reversed 0
HGVS NC_000023.10:g.153607845A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011922.6,