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rs142908436

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142908436(A;A)
Make rs142908436(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position49722057
GeneGMPPB
is asnp
is mentioned by
dbSNPrs142908436
ebirs142908436
HLIrs142908436
Exacrs142908436
Varsomers142908436
Maprs142908436
PheGenIrs142908436
hapmaprs142908436
1000 genomesrs142908436
hgdprs142908436
ensemblrs142908436
gopubmedrs142908436
geneviewrs142908436
scholarrs142908436
googlers142908436
pharmgkbrs142908436
gwascentralrs142908436
openSNPrs142908436
23andMers142908436
23andMe allrs142908436
SNP Nexus

SNPshotrs142908436
SNPdbers142908436
MSV3drs142908436
GWAS Ctlgrs142908436
Max Magnitude0
ClinVar
Risk rs142908436(A,T;A,T)
Alt rs142908436(A,T;A,T)
Reference rs142908436(G;G)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed 0
HGVS NC_000003.11:g.49759490G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000211126.1,