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rs397509422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509422(C;T)
Make rs397509422(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49721835
GeneGMPPB, RNF123
is asnp
is mentioned by
dbSNPrs397509422
ebirs397509422
HLIrs397509422
Exacrs397509422
Varsomers397509422
Maprs397509422
PheGenIrs397509422
hapmaprs397509422
1000 genomesrs397509422
hgdprs397509422
ensemblrs397509422
gopubmedrs397509422
geneviewrs397509422
scholarrs397509422
googlers397509422
pharmgkbrs397509422
gwascentralrs397509422
openSNPrs397509422
23andMers397509422
23andMe allrs397509422
SNP Nexus

SNPshotrs397509422
SNPdbers397509422
MSV3drs397509422
GWAS Ctlgrs397509422
Max Magnitude0
ClinVar
Risk rs397509422(T;T)
Alt rs397509422(T;T)
Reference rs397509422(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene RNF123 GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed 0
HGVS NC_000003.11:g.49759268C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054432.3, RCV000054433.3,