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rs431905496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs431905496(G;G)
Make rs431905496(G;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position78839434
GeneARSB
is asnp
is mentioned by
dbSNPrs431905496
dbSNP (classic)rs431905496
ClinGenrs431905496
ebirs431905496
HLIrs431905496
Exacrs431905496
Gnomadrs431905496
Varsomers431905496
LitVarrs431905496
Maprs431905496
PheGenIrs431905496
Biobankrs431905496
1000 genomesrs431905496
hgdprs431905496
ensemblrs431905496
geneviewrs431905496
scholarrs431905496
googlers431905496
pharmgkbrs431905496
gwascentralrs431905496
openSNPrs431905496
23andMers431905496
SNPshotrs431905496
SNPdbers431905496
MSV3drs431905496
GWAS Ctlgrs431905496
Max Magnitude0
ClinVar
Risk rs431905496(G;G)
Alt rs431905496(G;G)
Reference Rs431905496(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis type VI
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis type VI
Reversed 1
HGVS NC_000005.9:g.78135257A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000936.6,