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rs267607210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607210(C;T)
Make rs267607210(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position33384205
GeneLARGE
is asnp
is mentioned by
dbSNPrs267607210
ebirs267607210
HLIrs267607210
Exacrs267607210
Varsomers267607210
Maprs267607210
PheGenIrs267607210
hapmaprs267607210
1000 genomesrs267607210
hgdprs267607210
ensemblrs267607210
gopubmedrs267607210
geneviewrs267607210
scholarrs267607210
googlers267607210
pharmgkbrs267607210
gwascentralrs267607210
openSNPrs267607210
23andMers267607210
23andMe allrs267607210
SNP Nexus

SNPshotrs267607210
SNPdbers267607210
MSV3drs267607210
GWAS Ctlgrs267607210
Max Magnitude0
ClinVar
Risk rs267607210(T;T)
Alt rs267607210(T;T)
Reference rs267607210(C;C)
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.33780191G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006599.3,