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rs875989850

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs875989850(A;A)
Make rs875989850(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position49722239
GeneGMPPB
is asnp
is mentioned by
dbSNPrs875989850
ebirs875989850
HLIrs875989850
Exacrs875989850
Varsomers875989850
Maprs875989850
PheGenIrs875989850
hapmaprs875989850
1000 genomesrs875989850
hgdprs875989850
ensemblrs875989850
gopubmedrs875989850
geneviewrs875989850
scholarrs875989850
googlers875989850
pharmgkbrs875989850
gwascentralrs875989850
openSNPrs875989850
23andMers875989850
23andMe allrs875989850
SNP Nexus

SNPshotrs875989850
SNPdbers875989850
MSV3drs875989850
GWAS Ctlgrs875989850
Max Magnitude0
ClinVar
Risk rs875989850(A;A)
Alt rs875989850(A;A)
Reference rs875989850(G;G)
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.49759672C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000211128.1,