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rs483352896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483352896(A;G)
Make rs483352896(G;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position43158921
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs483352896
ebirs483352896
HLIrs483352896
Exacrs483352896
Varsomers483352896
Maprs483352896
PheGenIrs483352896
hapmaprs483352896
1000 genomesrs483352896
hgdprs483352896
ensemblrs483352896
gopubmedrs483352896
geneviewrs483352896
scholarrs483352896
googlers483352896
pharmgkbrs483352896
gwascentralrs483352896
openSNPrs483352896
23andMers483352896
23andMe allrs483352896
SNP Nexus

SNPshotrs483352896
SNPdbers483352896
MSV3drs483352896
GWAS Ctlgrs483352896
Max Magnitude0
ClinVar
Risk rs483352896(G;G)
Alt rs483352896(G;G)
Reference rs483352896(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43014064A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001295.3,