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rs398123238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123238(A;A)
Make rs398123238(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position65976061
GeneGUSB
is asnp
is mentioned by
dbSNPrs398123238
ebirs398123238
HLIrs398123238
Exacrs398123238
Varsomers398123238
Maprs398123238
PheGenIrs398123238
hapmaprs398123238
1000 genomesrs398123238
hgdprs398123238
ensemblrs398123238
gopubmedrs398123238
geneviewrs398123238
scholarrs398123238
googlers398123238
pharmgkbrs398123238
gwascentralrs398123238
openSNPrs398123238
23andMers398123238
23andMe allrs398123238
SNP Nexus

SNPshotrs398123238
SNPdbers398123238
MSV3drs398123238
GWAS Ctlgrs398123238
Max Magnitude0
ClinVar
Risk rs398123238(A;A)
Alt rs398123238(A;A)
Reference rs398123238(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN not provided Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65441048C>T
CLNSRC ClinVar Emory University
CLNACC RCV000078332.3, RCV000178728.1,