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rs869320680

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320680(-;-)
Make rs869320680(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position49531254
GeneDAG1
is asnp
is mentioned by
dbSNPrs869320680
ebirs869320680
HLIrs869320680
Exacrs869320680
Varsomers869320680
Maprs869320680
PheGenIrs869320680
hapmaprs869320680
1000 genomesrs869320680
hgdprs869320680
ensemblrs869320680
gopubmedrs869320680
geneviewrs869320680
scholarrs869320680
googlers869320680
pharmgkbrs869320680
gwascentralrs869320680
openSNPrs869320680
23andMers869320680
23andMe allrs869320680
SNP Nexus

SNPshotrs869320680
SNPdbers869320680
MSV3drs869320680
GWAS Ctlgrs869320680
Max Magnitude0
ClinVar
Risk rs869320680(;)
Alt rs869320680(;)
Reference rs869320680(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene DAG1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9
Reversed 0
HGVS NC_000003.11:g.49568687delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000190548.2,