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rs397509426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509426(C;T)
Make rs397509426(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49723632
GeneGMPPB
is asnp
is mentioned by
dbSNPrs397509426
ebirs397509426
HLIrs397509426
Exacrs397509426
Varsomers397509426
Maprs397509426
PheGenIrs397509426
hapmaprs397509426
1000 genomesrs397509426
hgdprs397509426
ensemblrs397509426
gopubmedrs397509426
geneviewrs397509426
scholarrs397509426
googlers397509426
pharmgkbrs397509426
gwascentralrs397509426
openSNPrs397509426
23andMers397509426
23andMe allrs397509426
SNP Nexus

SNPshotrs397509426
SNPdbers397509426
MSV3drs397509426
GWAS Ctlgrs397509426
Max Magnitude0
ClinVar
Risk rs397509426(T;T)
Alt rs397509426(T;T)
Reference rs397509426(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed 1
HGVS NC_000003.11:g.49761065G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054438.5, RCV000209926.1,