Have questions? Visit https://www.reddit.com/r/SNPedia

rs483352908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352908(A;A)
Make rs483352908(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position43147064
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs483352908
ebirs483352908
HLIrs483352908
Exacrs483352908
Varsomers483352908
Maprs483352908
PheGenIrs483352908
hapmaprs483352908
1000 genomesrs483352908
hgdprs483352908
ensemblrs483352908
gopubmedrs483352908
geneviewrs483352908
scholarrs483352908
googlers483352908
pharmgkbrs483352908
gwascentralrs483352908
openSNPrs483352908
23andMers483352908
23andMe allrs483352908
SNP Nexus

SNPshotrs483352908
SNPdbers483352908
MSV3drs483352908
GWAS Ctlgrs483352908
Max Magnitude0
ClinVar
Risk rs483352908(A;A)
Alt rs483352908(A;A)
Reference rs483352908(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C not provided
Reversed 0
HGVS NC_000008.10:g.43002207G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000023817.4, RCV000153361.3,