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rs431905495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905495(C;C)
Make rs431905495(C;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position78839427
GeneARSB
is asnp
is mentioned by
dbSNPrs431905495
ebirs431905495
HLIrs431905495
Exacrs431905495
Varsomers431905495
Maprs431905495
PheGenIrs431905495
hapmaprs431905495
1000 genomesrs431905495
hgdprs431905495
ensemblrs431905495
gopubmedrs431905495
geneviewrs431905495
scholarrs431905495
googlers431905495
pharmgkbrs431905495
gwascentralrs431905495
openSNPrs431905495
23andMers431905495
23andMe allrs431905495
SNP Nexus

SNPshotrs431905495
SNPdbers431905495
MSV3drs431905495
GWAS Ctlgrs431905495
Max Magnitude0
ClinVar
Risk rs431905495(C;C)
Alt rs431905495(C;C)
Reference rs431905495(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type VI
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis type VI
Reversed 1
HGVS NC_000005.9:g.78135250C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000935.5,