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rs869320700

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320700(G;G)
Make rs869320700(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position157367435
GeneDNAJB6, LOC105375608
is asnp
is mentioned by
dbSNPrs869320700
ebirs869320700
HLIrs869320700
Exacrs869320700
Varsomers869320700
Maprs869320700
PheGenIrs869320700
hapmaprs869320700
1000 genomesrs869320700
hgdprs869320700
ensemblrs869320700
gopubmedrs869320700
geneviewrs869320700
scholarrs869320700
googlers869320700
pharmgkbrs869320700
gwascentralrs869320700
openSNPrs869320700
23andMers869320700
23andMe allrs869320700
SNP Nexus

SNPshotrs869320700
SNPdbers869320700
MSV3drs869320700
GWAS Ctlgrs869320700
Max Magnitude0
ClinVar
Risk rs869320700(G;G)
Alt rs869320700(G;G)
Reference rs869320700(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.157160129T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210839.1,