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rs727503036

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503036(A;G)
Make rs727503036(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154380232
GeneEMD
is asnp
is mentioned by
dbSNPrs727503036
ebirs727503036
HLIrs727503036
Exacrs727503036
Varsomers727503036
Maprs727503036
PheGenIrs727503036
hapmaprs727503036
1000 genomesrs727503036
hgdprs727503036
ensemblrs727503036
gopubmedrs727503036
geneviewrs727503036
scholarrs727503036
googlers727503036
pharmgkbrs727503036
gwascentralrs727503036
openSNPrs727503036
23andMers727503036
23andMe allrs727503036
SNP Nexus

SNPshotrs727503036
SNPdbers727503036
MSV3drs727503036
GWAS Ctlgrs727503036
Max Magnitude0
ClinVar
Risk rs727503036(G;G)
Alt rs727503036(G;G)
Reference rs727503036(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.153608592A>G
CLNSRC
CLNACC RCV000150647.1,