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rs397509424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509424(C;T)
Make rs397509424(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49723663
GeneGMPPB
is asnp
is mentioned by
dbSNPrs397509424
ebirs397509424
HLIrs397509424
Exacrs397509424
Varsomers397509424
Maprs397509424
PheGenIrs397509424
hapmaprs397509424
1000 genomesrs397509424
hgdprs397509424
ensemblrs397509424
gopubmedrs397509424
geneviewrs397509424
scholarrs397509424
googlers397509424
pharmgkbrs397509424
gwascentralrs397509424
openSNPrs397509424
23andMers397509424
23andMe allrs397509424
SNP Nexus

SNPshotrs397509424
SNPdbers397509424
MSV3drs397509424
GWAS Ctlgrs397509424
Max Magnitude0
ClinVar
Risk rs397509424(T;T)
Alt rs397509424(T;T)
Reference rs397509424(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed 1
HGVS NC_000003.11:g.49761096G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054435.3,