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rs121918176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918176(C;T)
Make rs121918176(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65961022
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918176
ebirs121918176
HLIrs121918176
Exacrs121918176
Varsomers121918176
Maprs121918176
PheGenIrs121918176
hapmaprs121918176
1000 genomesrs121918176
hgdprs121918176
ensemblrs121918176
gopubmedrs121918176
geneviewrs121918176
scholarrs121918176
googlers121918176
pharmgkbrs121918176
gwascentralrs121918176
openSNPrs121918176
23andMers121918176
23andMe allrs121918176
SNP Nexus

SNPshotrs121918176
SNPdbers121918176
MSV3drs121918176
GWAS Ctlgrs121918176
Max Magnitude0
OMIM611499
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918176(T;T)
Alt rs121918176(T;T)
Reference rs121918176(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65426009G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000945.4,