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rs121908282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908282(C;T)
Make rs121908282(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position43173740
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs121908282
ebirs121908282
HLIrs121908282
Exacrs121908282
Varsomers121908282
Maprs121908282
PheGenIrs121908282
hapmaprs121908282
1000 genomesrs121908282
hgdprs121908282
ensemblrs121908282
gopubmedrs121908282
geneviewrs121908282
scholarrs121908282
googlers121908282
pharmgkbrs121908282
gwascentralrs121908282
openSNPrs121908282
23andMers121908282
23andMe allrs121908282
SNP Nexus

SNPshotrs121908282
SNPdbers121908282
MSV3drs121908282
GWAS Ctlgrs121908282
Max Magnitude0
OMIM610453
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908282(T;T)
Alt rs121908282(T;T)
Reference rs121908282(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43028883C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001291.3,