Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907046(C;C)
Make rs387907046(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position157367414
GeneDNAJB6
is asnp
is mentioned by
dbSNPrs387907046
ebirs387907046
HLIrs387907046
Exacrs387907046
Varsomers387907046
Maprs387907046
PheGenIrs387907046
hapmaprs387907046
1000 genomesrs387907046
hgdprs387907046
ensemblrs387907046
gopubmedrs387907046
geneviewrs387907046
scholarrs387907046
googlers387907046
pharmgkbrs387907046
gwascentralrs387907046
openSNPrs387907046
23andMers387907046
23andMe allrs387907046
SNP Nexus

SNPshotrs387907046
SNPdbers387907046
MSV3drs387907046
GWAS Ctlgrs387907046
Max Magnitude0
ClinVar
Risk rs387907046(C;C)
Alt rs387907046(C;C)
Reference rs387907046(T;T)
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.157160108T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023891.2,