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rs730880352

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880352(-;-)
Make rs730880352(-;TGGGC)
Make rs730880352(TGGGC;TGGGC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154381086
GeneEMD
is asnp
is mentioned by
dbSNPrs730880352
ebirs730880352
HLIrs730880352
Exacrs730880352
Varsomers730880352
Maprs730880352
PheGenIrs730880352
hapmaprs730880352
1000 genomesrs730880352
hgdprs730880352
ensemblrs730880352
gopubmedrs730880352
geneviewrs730880352
scholarrs730880352
googlers730880352
pharmgkbrs730880352
gwascentralrs730880352
openSNPrs730880352
23andMers730880352
23andMe allrs730880352
SNP Nexus

SNPshotrs730880352
SNPdbers730880352
MSV3drs730880352
GWAS Ctlgrs730880352
Max Magnitude0
ClinVar
Risk rs730880352(GGGCT;GGGCT)
Alt rs730880352(GGGCT;GGGCT)
Reference rs730880352(;)
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.153609442_153609446dupTGGGC
CLNSRC
CLNACC RCV000155918.1,