Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922955(C;T)
Make rs193922955(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49531086
GeneDAG1
is asnp
is mentioned by
dbSNPrs193922955
ebirs193922955
HLIrs193922955
Exacrs193922955
Varsomers193922955
Maprs193922955
PheGenIrs193922955
hapmaprs193922955
1000 genomesrs193922955
hgdprs193922955
ensemblrs193922955
gopubmedrs193922955
geneviewrs193922955
scholarrs193922955
googlers193922955
pharmgkbrs193922955
gwascentralrs193922955
openSNPrs193922955
23andMers193922955
23andMe allrs193922955
SNP Nexus

SNPshotrs193922955
SNPdbers193922955
MSV3drs193922955
GWAS Ctlgrs193922955
Max Magnitude0
ClinVar
Risk rs193922955(T;T)
Alt rs193922955(T;T)
Reference rs193922955(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy not provided
Variation info
Gene DAG1
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 not provided
Reversed 0
HGVS NC_000003.11:g.49568519C>T
CLNSRC Leiden Muscular Dystrophy pages (DAG1) OMIM Allelic Variant
CLNACC RCV000022532.30, RCV000024453.1,


[PMID 21388311OA-icon.png] A dystroglycan mutation associated with limb-girdle muscular dystrophy.