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rs869320701

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320701(A;A)
Make rs869320701(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position157367408
GeneDNAJB6, LOC105375608
is asnp
is mentioned by
dbSNPrs869320701
ebirs869320701
HLIrs869320701
Exacrs869320701
Varsomers869320701
Maprs869320701
PheGenIrs869320701
hapmaprs869320701
1000 genomesrs869320701
hgdprs869320701
ensemblrs869320701
gopubmedrs869320701
geneviewrs869320701
scholarrs869320701
googlers869320701
pharmgkbrs869320701
gwascentralrs869320701
openSNPrs869320701
23andMers869320701
23andMe allrs869320701
SNP Nexus

SNPshotrs869320701
SNPdbers869320701
MSV3drs869320701
GWAS Ctlgrs869320701
Max Magnitude0
ClinVar
Risk rs869320701(A;A)
Alt rs869320701(A;A)
Reference rs869320701(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.157160102T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210825.1,