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rs121908284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908284(A;A)
Make rs121908284(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position43193824
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs121908284
ebirs121908284
HLIrs121908284
Exacrs121908284
Varsomers121908284
Maprs121908284
PheGenIrs121908284
hapmaprs121908284
1000 genomesrs121908284
hgdprs121908284
ensemblrs121908284
gopubmedrs121908284
geneviewrs121908284
scholarrs121908284
googlers121908284
pharmgkbrs121908284
gwascentralrs121908284
openSNPrs121908284
23andMers121908284
23andMe allrs121908284
SNP Nexus

SNPshotrs121908284
SNPdbers121908284
MSV3drs121908284
GWAS Ctlgrs121908284
Max Magnitude0
OMIM610453
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908284(A;A)
Alt rs121908284(A;A)
Reference rs121908284(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43048967T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001293.4,