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rs782222974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs782222974(A;A)
Make rs782222974(A;G)
ReferenceGRCh38.p7 38.3/149
ChromosomeX
Position154379710
GeneEMD
is asnp
is mentioned by
dbSNPrs782222974
dbSNP (classic)rs782222974
ClinGenrs782222974
ebirs782222974
HLIrs782222974
Exacrs782222974
Gnomadrs782222974
Varsomers782222974
LitVarrs782222974
Maprs782222974
PheGenIrs782222974
Biobankrs782222974
1000 genomesrs782222974
hgdprs782222974
ensemblrs782222974
geneviewrs782222974
scholarrs782222974
googlers782222974
pharmgkbrs782222974
gwascentralrs782222974
openSNPrs782222974
23andMers782222974
SNPshotrs782222974
SNPdbers782222974
MSV3drs782222974
GWAS Ctlgrs782222974
Merged fromRs794729018, Rs886041812
Max Magnitude0
ClinVar
Risk rs782222974(A;A) rs782222974(T;T)
Alt rs782222974(A;A) rs782222974(T;T)
Reference Rs782222974(G;G)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 1 not provided
Variation info
Gene EMD
CLNDBN Emery-Dreifuss muscular dystrophy 1, X-linked not provided
Reversed 0
HGVS NC_000023.10:g.153608070G>A; NC_000023.10:g.153608070G>T
CLNSRC
CLNACC RCV000465491.1, RCV000406349.1,