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rs397514441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514441(A;A)
Make rs397514441(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78985034
GeneARSB
is asnp
is mentioned by
dbSNPrs397514441
ebirs397514441
HLIrs397514441
Exacrs397514441
Varsomers397514441
Maprs397514441
PheGenIrs397514441
hapmaprs397514441
1000 genomesrs397514441
hgdprs397514441
ensemblrs397514441
gopubmedrs397514441
geneviewrs397514441
scholarrs397514441
googlers397514441
pharmgkbrs397514441
gwascentralrs397514441
openSNPrs397514441
23andMers397514441
23andMe allrs397514441
SNP Nexus

SNPshotrs397514441
SNPdbers397514441
MSV3drs397514441
GWAS Ctlgrs397514441
Max Magnitude0
ClinVar
Risk rs397514441(A,G;A,G)
Alt rs397514441(A,G;A,G)
Reference rs397514441(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis, type vi, severe not provided
Reversed 1
HGVS NC_000005.9:g.78280857A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000931.5, RCV000224599.1,