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rs483352894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs483352894(-;-)
Make rs483352894(-;G)
Make rs483352894(G;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position43192397
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs483352894
ebirs483352894
HLIrs483352894
Exacrs483352894
Varsomers483352894
Maprs483352894
PheGenIrs483352894
hapmaprs483352894
1000 genomesrs483352894
hgdprs483352894
ensemblrs483352894
gopubmedrs483352894
geneviewrs483352894
scholarrs483352894
googlers483352894
pharmgkbrs483352894
gwascentralrs483352894
openSNPrs483352894
23andMers483352894
23andMe allrs483352894
SNP Nexus

SNPshotrs483352894
SNPdbers483352894
MSV3drs483352894
GWAS Ctlgrs483352894
Max Magnitude0
ClinVar
Risk rs483352894(G;G)
Alt rs483352894(G;G)
Reference rs483352894(;)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43047541dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001290.3,