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rs398123262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123262(A;G)
Make rs398123262(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position52038259
GeneSGCB
is asnp
is mentioned by
dbSNPrs398123262
ebirs398123262
HLIrs398123262
Exacrs398123262
Varsomers398123262
Maprs398123262
PheGenIrs398123262
hapmaprs398123262
1000 genomesrs398123262
hgdprs398123262
ensemblrs398123262
gopubmedrs398123262
geneviewrs398123262
scholarrs398123262
googlers398123262
pharmgkbrs398123262
gwascentralrs398123262
openSNPrs398123262
23andMers398123262
23andMe allrs398123262
SNP Nexus

SNPshotrs398123262
SNPdbers398123262
MSV3drs398123262
GWAS Ctlgrs398123262
Max Magnitude0
ClinVar
Risk rs398123262(G;G)
Alt rs398123262(G;G)
Reference rs398123262(A;A)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene SGCB
CLNDBN not provided Limb-girdle muscular dystrophy, type 2E
Reversed 1
HGVS NC_000004.11:g.52904425T>C
CLNSRC ClinVar Emory University
CLNACC RCV000078411.3, RCV000173087.1,