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rs121918177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918177(C;T)
Make rs121918177(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65979866
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918177
ebirs121918177
HLIrs121918177
Exacrs121918177
Varsomers121918177
Maprs121918177
PheGenIrs121918177
hapmaprs121918177
1000 genomesrs121918177
hgdprs121918177
ensemblrs121918177
gopubmedrs121918177
geneviewrs121918177
scholarrs121918177
googlers121918177
pharmgkbrs121918177
gwascentralrs121918177
openSNPrs121918177
23andMers121918177
23andMe allrs121918177
SNP Nexus

SNPshotrs121918177
SNPdbers121918177
MSV3drs121918177
GWAS Ctlgrs121918177
Max Magnitude0
OMIM611499
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918177(T;T)
Alt rs121918177(T;T)
Reference rs121918177(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65444853G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000946.4,