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rs764206492

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764206492(G;T)
Make rs764206492(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position43191554
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs764206492
ebirs764206492
HLIrs764206492
Exacrs764206492
Varsomers764206492
Maprs764206492
PheGenIrs764206492
hapmaprs764206492
1000 genomesrs764206492
hgdprs764206492
ensemblrs764206492
gopubmedrs764206492
geneviewrs764206492
scholarrs764206492
googlers764206492
pharmgkbrs764206492
gwascentralrs764206492
openSNPrs764206492
23andMers764206492
23andMe allrs764206492
SNP Nexus

SNPshotrs764206492
SNPdbers764206492
MSV3drs764206492
GWAS Ctlgrs764206492
Max Magnitude0
ClinVar
Risk rs764206492(T;T)
Alt rs764206492(T;T)
Reference rs764206492(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43046697G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190846.2,