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rs121918175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918175(C;T)
Make rs121918175(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65974923
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918175
ebirs121918175
HLIrs121918175
Exacrs121918175
Varsomers121918175
Maprs121918175
PheGenIrs121918175
hapmaprs121918175
1000 genomesrs121918175
hgdprs121918175
ensemblrs121918175
gopubmedrs121918175
geneviewrs121918175
scholarrs121918175
googlers121918175
pharmgkbrs121918175
gwascentralrs121918175
openSNPrs121918175
23andMers121918175
23andMe allrs121918175
SNP Nexus

SNPshotrs121918175
SNPdbers121918175
MSV3drs121918175
GWAS Ctlgrs121918175
Max Magnitude0
OMIM611499
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918175(T;T)
Alt rs121918175(T;T)
Reference rs121918175(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65439910G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000944.4,