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rs267607209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607209(C;C)
Make rs267607209(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position33304476
GeneLARGE
is asnp
is mentioned by
dbSNPrs267607209
ebirs267607209
HLIrs267607209
Exacrs267607209
Varsomers267607209
Maprs267607209
PheGenIrs267607209
hapmaprs267607209
1000 genomesrs267607209
hgdprs267607209
ensemblrs267607209
gopubmedrs267607209
geneviewrs267607209
scholarrs267607209
googlers267607209
pharmgkbrs267607209
gwascentralrs267607209
openSNPrs267607209
23andMers267607209
23andMe allrs267607209
SNP Nexus

SNPshotrs267607209
SNPdbers267607209
MSV3drs267607209
GWAS Ctlgrs267607209
Max Magnitude0
ClinVar
Risk rs267607209(C;C)
Alt rs267607209(C;C)
Reference rs267607209(T;T)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene LARGE
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
Reversed 1
HGVS NC_000022.10:g.33700462A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006597.3,