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rs121908285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908285(C;T)
Make rs121908285(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position43182162
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs121908285
ebirs121908285
HLIrs121908285
Exacrs121908285
Varsomers121908285
Maprs121908285
PheGenIrs121908285
hapmaprs121908285
1000 genomesrs121908285
hgdprs121908285
ensemblrs121908285
gopubmedrs121908285
geneviewrs121908285
scholarrs121908285
googlers121908285
pharmgkbrs121908285
gwascentralrs121908285
openSNPrs121908285
23andMers121908285
23andMe allrs121908285
SNP Nexus

SNPshotrs121908285
SNPdbers121908285
MSV3drs121908285
GWAS Ctlgrs121908285
Max Magnitude0
OMIM610453
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908285(T;T)
Alt rs121908285(T;T)
Reference rs121908285(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43037305C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001296.3,