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rs875989851

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs875989851(C;T)
Make rs875989851(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position49723066
GeneGMPPB
is asnp
is mentioned by
dbSNPrs875989851
ebirs875989851
HLIrs875989851
Exacrs875989851
Varsomers875989851
Maprs875989851
PheGenIrs875989851
hapmaprs875989851
1000 genomesrs875989851
hgdprs875989851
ensemblrs875989851
gopubmedrs875989851
geneviewrs875989851
scholarrs875989851
googlers875989851
pharmgkbrs875989851
gwascentralrs875989851
openSNPrs875989851
23andMers875989851
23andMe allrs875989851
SNP Nexus

SNPshotrs875989851
SNPdbers875989851
MSV3drs875989851
GWAS Ctlgrs875989851
Max Magnitude0
ClinVar
Risk rs875989851(T;T)
Alt rs875989851(T;T)
Reference rs875989851(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed 1
HGVS NC_000003.11:g.49760499G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000211125.1,