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rs398123776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123776(C;T)
Make rs398123776(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71569878
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123776
ebirs398123776
HLIrs398123776
Exacrs398123776
Varsomers398123776
Maprs398123776
PheGenIrs398123776
hapmaprs398123776
1000 genomesrs398123776
hgdprs398123776
ensemblrs398123776
gopubmedrs398123776
geneviewrs398123776
scholarrs398123776
googlers398123776
pharmgkbrs398123776
gwascentralrs398123776
openSNPrs398123776
23andMers398123776
23andMe allrs398123776
SNP Nexus

SNPshotrs398123776
SNPdbers398123776
MSV3drs398123776
GWAS Ctlgrs398123776
Max Magnitude0
ClinVar
Risk rs398123776(T;T)
Alt rs398123776(T;T)
Reference rs398123776(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71797008C>T
CLNSRC ClinVar Emory University
CLNACC RCV000080259.3, RCV000176736.1,