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rs483352895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs483352895(-;-)
Make rs483352895(-;T)
Make rs483352895(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position43161469
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs483352895
ebirs483352895
HLIrs483352895
Exacrs483352895
Varsomers483352895
Maprs483352895
PheGenIrs483352895
hapmaprs483352895
1000 genomesrs483352895
hgdprs483352895
ensemblrs483352895
gopubmedrs483352895
geneviewrs483352895
scholarrs483352895
googlers483352895
pharmgkbrs483352895
gwascentralrs483352895
openSNPrs483352895
23andMers483352895
23andMe allrs483352895
SNP Nexus

SNPshotrs483352895
SNPdbers483352895
MSV3drs483352895
GWAS Ctlgrs483352895
Max Magnitude0
ClinVar
Risk rs483352895(T;T)
Alt rs483352895(T;T)
Reference rs483352895(;)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43016612dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001294.3,