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rs397509425

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509425(C;T)
Make rs397509425(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49722604
GeneGMPPB
is asnp
is mentioned by
dbSNPrs397509425
ebirs397509425
HLIrs397509425
Exacrs397509425
Varsomers397509425
Maprs397509425
PheGenIrs397509425
hapmaprs397509425
1000 genomesrs397509425
hgdprs397509425
ensemblrs397509425
gopubmedrs397509425
geneviewrs397509425
scholarrs397509425
googlers397509425
pharmgkbrs397509425
gwascentralrs397509425
openSNPrs397509425
23andMers397509425
23andMe allrs397509425
SNP Nexus

SNPshotrs397509425
SNPdbers397509425
MSV3drs397509425
GWAS Ctlgrs397509425
Max Magnitude0
ClinVar
Risk rs397509425(T;T)
Alt rs397509425(T;T)
Reference rs397509425(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) Muscular dystrophy-dystroglycanopathy (limb-girdle) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
Reversed 1
HGVS NC_000003.11:g.49760037G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054436.4, RCV000054437.4, RCV000200261.1,