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rs398123234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123234(A;A)
Make rs398123234(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position65974686
GeneGUSB
is asnp
is mentioned by
dbSNPrs398123234
ebirs398123234
HLIrs398123234
Exacrs398123234
Varsomers398123234
Maprs398123234
PheGenIrs398123234
hapmaprs398123234
1000 genomesrs398123234
hgdprs398123234
ensemblrs398123234
gopubmedrs398123234
geneviewrs398123234
scholarrs398123234
googlers398123234
pharmgkbrs398123234
gwascentralrs398123234
openSNPrs398123234
23andMers398123234
23andMe allrs398123234
SNP Nexus

SNPshotrs398123234
SNPdbers398123234
MSV3drs398123234
GWAS Ctlgrs398123234
Max Magnitude0
ClinVar
Risk rs398123234(A;A)
Alt rs398123234(A;A)
Reference rs398123234(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.65439673C>T
CLNSRC HGMD
CLNACC RCV000078323.3, RCV000179731.1,