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

rs121908283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908283(G;G)
Make rs121908283(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position43178184
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs121908283
ebirs121908283
HLIrs121908283
Exacrs121908283
Varsomers121908283
Maprs121908283
PheGenIrs121908283
hapmaprs121908283
1000 genomesrs121908283
hgdprs121908283
ensemblrs121908283
gopubmedrs121908283
geneviewrs121908283
scholarrs121908283
googlers121908283
pharmgkbrs121908283
gwascentralrs121908283
openSNPrs121908283
23andMers121908283
23andMe allrs121908283
SNP Nexus

SNPshotrs121908283
SNPdbers121908283
MSV3drs121908283
GWAS Ctlgrs121908283
Max Magnitude0
OMIM610453
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908283(G;G)
Alt rs121908283(G;G)
Reference rs121908283(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43033327T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001292.3,