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rs387906224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906224(C;C)
Make rs387906224(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position45892849
GeneCTSA, NEURL2
is asnp
is mentioned by
dbSNPrs387906224
ebirs387906224
HLIrs387906224
Exacrs387906224
Varsomers387906224
Maprs387906224
PheGenIrs387906224
hapmaprs387906224
1000 genomesrs387906224
hgdprs387906224
ensemblrs387906224
gopubmedrs387906224
geneviewrs387906224
scholarrs387906224
googlers387906224
pharmgkbrs387906224
gwascentralrs387906224
openSNPrs387906224
23andMers387906224
23andMe allrs387906224
SNP Nexus

SNPshotrs387906224
SNPdbers387906224
MSV3drs387906224
GWAS Ctlgrs387906224
Max Magnitude0
ClinVar
Risk rs387906224(C;C)
Alt rs387906224(C;C)
Reference rs387906224(T;T)
Significance Pathogenic
Disease Galactosialidosis
Variation info
Gene
CLNDBN Galactosialidosis, early infantile
Reversed 0
HGVS NC_000020.10:g.44521488T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000415.1,