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rs193066451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193066451(A;A)
Make rs193066451(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position43159045
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs193066451
ebirs193066451
HLIrs193066451
Exacrs193066451
Varsomers193066451
Maprs193066451
PheGenIrs193066451
hapmaprs193066451
1000 genomesrs193066451
hgdprs193066451
ensemblrs193066451
gopubmedrs193066451
geneviewrs193066451
scholarrs193066451
googlers193066451
pharmgkbrs193066451
gwascentralrs193066451
openSNPrs193066451
23andMers193066451
23andMe allrs193066451
SNP Nexus

SNPshotrs193066451
SNPdbers193066451
MSV3drs193066451
GWAS Ctlgrs193066451
Max Magnitude0
ClinVar
Risk rs193066451(A;A)
Alt rs193066451(A;A)
Reference rs193066451(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43014188G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001289.3,