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rs121918172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918172(C;T)
Make rs121918172(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65960997
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918172
ebirs121918172
HLIrs121918172
Exacrs121918172
Varsomers121918172
Maprs121918172
PheGenIrs121918172
hapmaprs121918172
1000 genomesrs121918172
hgdprs121918172
ensemblrs121918172
gopubmedrs121918172
geneviewrs121918172
scholarrs121918172
googlers121918172
pharmgkbrs121918172
gwascentralrs121918172
openSNPrs121918172
23andMers121918172
23andMe allrs121918172
SNP Nexus

SNPshotrs121918172
SNPdbers121918172
MSV3drs121918172
GWAS Ctlgrs121918172
Max Magnitude0
OMIM611499
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918172(T;T)
Alt rs121918172(T;T)
Reference rs121918172(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65425984G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000941.3,