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rs398123773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123773(C;T)
Make rs398123773(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71561900
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123773
ebirs398123773
HLIrs398123773
Exacrs398123773
Varsomers398123773
Maprs398123773
PheGenIrs398123773
hapmaprs398123773
1000 genomesrs398123773
hgdprs398123773
ensemblrs398123773
gopubmedrs398123773
geneviewrs398123773
scholarrs398123773
googlers398123773
pharmgkbrs398123773
gwascentralrs398123773
openSNPrs398123773
23andMers398123773
23andMe allrs398123773
SNP Nexus

SNPshotrs398123773
SNPdbers398123773
MSV3drs398123773
GWAS Ctlgrs398123773
Max Magnitude0
ClinVar
Risk rs398123773(T;T)
Alt rs398123773(T;T)
Reference rs398123773(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.71789030C>T
CLNSRC ClinVar Emory University
CLNACC RCV000080249.3, RCV000176393.1,