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rs199922550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199922550(C;T)
Make rs199922550(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49721847
GeneGMPPB, RNF123
is asnp
is mentioned by
dbSNPrs199922550
ebirs199922550
HLIrs199922550
Exacrs199922550
Varsomers199922550
Maprs199922550
PheGenIrs199922550
hapmaprs199922550
1000 genomesrs199922550
hgdprs199922550
ensemblrs199922550
gopubmedrs199922550
geneviewrs199922550
scholarrs199922550
googlers199922550
pharmgkbrs199922550
gwascentralrs199922550
openSNPrs199922550
23andMers199922550
23andMe allrs199922550
SNP Nexus

SNPshotrs199922550
SNPdbers199922550
MSV3drs199922550
GWAS Ctlgrs199922550
Max Magnitude0
ClinVar
Risk rs199922550(T;T)
Alt rs199922550(T;T)
Reference rs199922550(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene RNF123 GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed 0
HGVS NC_000003.11:g.49759280C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054441.3,