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rs397509423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509423(C;T)
Make rs397509423(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49723293
GeneGMPPB
is asnp
is mentioned by
dbSNPrs397509423
ebirs397509423
HLIrs397509423
Exacrs397509423
Varsomers397509423
Maprs397509423
PheGenIrs397509423
hapmaprs397509423
1000 genomesrs397509423
hgdprs397509423
ensemblrs397509423
gopubmedrs397509423
geneviewrs397509423
scholarrs397509423
googlers397509423
pharmgkbrs397509423
gwascentralrs397509423
openSNPrs397509423
23andMers397509423
23andMe allrs397509423
SNP Nexus

SNPshotrs397509423
SNPdbers397509423
MSV3drs397509423
GWAS Ctlgrs397509423
Max Magnitude0
ClinVar
Risk rs397509423(T;T)
Alt rs397509423(T;T)
Reference rs397509423(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
Reversed 1
HGVS NC_000003.11:g.49760726G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054434.4,