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rs431905493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905493(-;-)
Make rs431905493(-;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position78985011
GeneARSB
is asnp
is mentioned by
dbSNPrs431905493
ebirs431905493
HLIrs431905493
Exacrs431905493
Varsomers431905493
Maprs431905493
PheGenIrs431905493
hapmaprs431905493
1000 genomesrs431905493
hgdprs431905493
ensemblrs431905493
gopubmedrs431905493
geneviewrs431905493
scholarrs431905493
googlers431905493
pharmgkbrs431905493
gwascentralrs431905493
openSNPrs431905493
23andMers431905493
23andMe allrs431905493
SNP Nexus

SNPshotrs431905493
SNPdbers431905493
MSV3drs431905493
GWAS Ctlgrs431905493
Max Magnitude0
ClinVar
Risk rs431905493(;)
Alt rs431905493(;)
Reference rs431905493(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis, type vi, severe
Reversed 1
HGVS NC_000005.9:g.78280834delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000929.5,