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rs149278319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149278319(C;T)
Make rs149278319(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position157367416
GeneDNAJB6
is asnp
is mentioned by
dbSNPrs149278319
ebirs149278319
HLIrs149278319
Exacrs149278319
Varsomers149278319
Maprs149278319
PheGenIrs149278319
hapmaprs149278319
1000 genomesrs149278319
hgdprs149278319
ensemblrs149278319
gopubmedrs149278319
geneviewrs149278319
scholarrs149278319
googlers149278319
pharmgkbrs149278319
gwascentralrs149278319
openSNPrs149278319
23andMers149278319
23andMe allrs149278319
SNP Nexus

SNPshotrs149278319
SNPdbers149278319
MSV3drs149278319
GWAS Ctlgrs149278319
Max Magnitude0
ClinVar
Risk rs149278319(A,G,T;A,G,T)
Alt rs149278319(A,G,T;A,G,T)
Reference rs149278319(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.157160110C>A; NC_000007.13:g.157160110C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024241.2, RCV000024240.3,