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rs121908286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908286(C;T)
Make rs121908286(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position43197682
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs121908286
ebirs121908286
HLIrs121908286
Exacrs121908286
Varsomers121908286
Maprs121908286
PheGenIrs121908286
hapmaprs121908286
1000 genomesrs121908286
hgdprs121908286
ensemblrs121908286
gopubmedrs121908286
geneviewrs121908286
scholarrs121908286
googlers121908286
pharmgkbrs121908286
gwascentralrs121908286
openSNPrs121908286
23andMers121908286
23andMe allrs121908286
SNP Nexus

SNPshotrs121908286
SNPdbers121908286
MSV3drs121908286
GWAS Ctlgrs121908286
Max Magnitude0
OMIM610453
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908286(T;T)
Alt rs121908286(T;T)
Reference rs121908286(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43052825C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001297.3,