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rs431905494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs431905494(-;-)
Make rs431905494(-;C)
ReferenceGRCh38 38.1/142
Chromosome5
Position78955450
GeneARSB
is asnp
is mentioned by
dbSNPrs431905494
ebirs431905494
HLIrs431905494
Exacrs431905494
Varsomers431905494
Maprs431905494
PheGenIrs431905494
hapmaprs431905494
1000 genomesrs431905494
hgdprs431905494
ensemblrs431905494
gopubmedrs431905494
geneviewrs431905494
scholarrs431905494
googlers431905494
pharmgkbrs431905494
gwascentralrs431905494
openSNPrs431905494
23andMers431905494
23andMe allrs431905494
SNP Nexus

SNPshotrs431905494
SNPdbers431905494
MSV3drs431905494
GWAS Ctlgrs431905494
Max Magnitude0
ClinVar
Risk rs431905494(;)
Alt rs431905494(;)
Reference rs431905494(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis, type vi, severe
Reversed 1
HGVS NC_000005.9:g.78251273delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000930.5,