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rs797045023

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045023(G;T)
Make rs797045023(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position49532517
GeneDAG1
is asnp
is mentioned by
dbSNPrs797045023
ebirs797045023
HLIrs797045023
Exacrs797045023
Varsomers797045023
Maprs797045023
PheGenIrs797045023
hapmaprs797045023
1000 genomesrs797045023
hgdprs797045023
ensemblrs797045023
gopubmedrs797045023
geneviewrs797045023
scholarrs797045023
googlers797045023
pharmgkbrs797045023
gwascentralrs797045023
openSNPrs797045023
23andMers797045023
23andMe allrs797045023
SNP Nexus

SNPshotrs797045023
SNPdbers797045023
MSV3drs797045023
GWAS Ctlgrs797045023
Max Magnitude0
ClinVar
Risk rs797045023(T;T)
Alt rs797045023(T;T)
Reference rs797045023(G;G)
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.49569950G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190547.2,