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rs387907047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907047(C;G)
Make rs387907047(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position157367424
GeneDNAJB6
is asnp
is mentioned by
dbSNPrs387907047
ebirs387907047
HLIrs387907047
Exacrs387907047
Varsomers387907047
Maprs387907047
PheGenIrs387907047
hapmaprs387907047
1000 genomesrs387907047
hgdprs387907047
ensemblrs387907047
gopubmedrs387907047
geneviewrs387907047
scholarrs387907047
googlers387907047
pharmgkbrs387907047
gwascentralrs387907047
openSNPrs387907047
23andMers387907047
23andMe allrs387907047
SNP Nexus

SNPshotrs387907047
SNPdbers387907047
MSV3drs387907047
GWAS Ctlgrs387907047
Max Magnitude0
ClinVar
Risk rs387907047(G;G)
Alt rs387907047(G;G)
Reference rs387907047(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DNAJB6
CLNDBN Limb-girdle muscular dystrophy, type 1E
Reversed 0
HGVS NC_000007.13:g.157160118C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023892.2,