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rs132630262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630262(C;T)
Make rs132630262(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154379737
GeneEMD
is asnp
is mentioned by
dbSNPrs132630262
ebirs132630262
HLIrs132630262
Exacrs132630262
Varsomers132630262
Maprs132630262
PheGenIrs132630262
hapmaprs132630262
1000 genomesrs132630262
hgdprs132630262
ensemblrs132630262
gopubmedrs132630262
geneviewrs132630262
scholarrs132630262
googlers132630262
pharmgkbrs132630262
gwascentralrs132630262
openSNPrs132630262
23andMers132630262
23andMe allrs132630262
SNP Nexus

SNPshotrs132630262
SNPdbers132630262
MSV3drs132630262
GWAS Ctlgrs132630262
Max Magnitude0
OMIM300384
Desc
Variant0006
Relatedalso
ClinVar
Risk rs132630262(T;T)
Alt rs132630262(T;T)
Reference rs132630262(C;C)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy not provided
Variation info
Gene EMD
CLNDBN Emery-Dreifuss muscular dystrophy, X-linked not provided
Reversed 0
HGVS NC_000023.10:g.153608097C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011926.3, RCV000078128.4,