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rs202160208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202160208(C;T)
Make rs202160208(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49722056
GeneGMPPB
is asnp
is mentioned by
dbSNPrs202160208
ebirs202160208
HLIrs202160208
Exacrs202160208
Varsomers202160208
Maprs202160208
PheGenIrs202160208
hapmaprs202160208
1000 genomesrs202160208
hgdprs202160208
ensemblrs202160208
gopubmedrs202160208
geneviewrs202160208
scholarrs202160208
googlers202160208
pharmgkbrs202160208
gwascentralrs202160208
openSNPrs202160208
23andMers202160208
23andMe allrs202160208
SNP Nexus

SNPshotrs202160208
SNPdbers202160208
MSV3drs202160208
GWAS Ctlgrs202160208
Max Magnitude0
ClinVar
Risk rs202160208(T;T)
Alt rs202160208(T;T)
Reference rs202160208(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 0
HGVS NC_000003.11:g.49759489C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054439.3, RCV000209893.1,