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

rs759982570

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs759982570(C;T)
Make rs759982570(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position157367410
GeneDNAJB6, LOC105375608
is asnp
is mentioned by
dbSNPrs759982570
ebirs759982570
HLIrs759982570
Exacrs759982570
Varsomers759982570
Maprs759982570
PheGenIrs759982570
hapmaprs759982570
1000 genomesrs759982570
hgdprs759982570
ensemblrs759982570
gopubmedrs759982570
geneviewrs759982570
scholarrs759982570
googlers759982570
pharmgkbrs759982570
gwascentralrs759982570
openSNPrs759982570
23andMers759982570
23andMe allrs759982570
SNP Nexus

SNPshotrs759982570
SNPdbers759982570
MSV3drs759982570
GWAS Ctlgrs759982570
Max Magnitude0
ClinVar
Risk rs759982570(T;T)
Alt rs759982570(T;T)
Reference rs759982570(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.157160104C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210832.1,