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rs121918174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918174(C;T)
Make rs121918174(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65979477
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918174
ebirs121918174
HLIrs121918174
Exacrs121918174
Varsomers121918174
Maprs121918174
PheGenIrs121918174
hapmaprs121918174
1000 genomesrs121918174
hgdprs121918174
ensemblrs121918174
gopubmedrs121918174
geneviewrs121918174
scholarrs121918174
googlers121918174
pharmgkbrs121918174
gwascentralrs121918174
openSNPrs121918174
23andMers121918174
23andMe allrs121918174
SNP Nexus

SNPshotrs121918174
SNPdbers121918174
MSV3drs121918174
GWAS Ctlgrs121918174
Max Magnitude0
OMIM611499
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918174(T;T)
Alt rs121918174(T;T)
Reference rs121918174(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65444464G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000943.5,