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rs121918184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918184(G;T)
Make rs121918184(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65960972
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918184
ebirs121918184
HLIrs121918184
Exacrs121918184
Varsomers121918184
Maprs121918184
PheGenIrs121918184
hapmaprs121918184
1000 genomesrs121918184
hgdprs121918184
ensemblrs121918184
gopubmedrs121918184
geneviewrs121918184
scholarrs121918184
googlers121918184
pharmgkbrs121918184
gwascentralrs121918184
openSNPrs121918184
23andMers121918184
23andMe allrs121918184
SNP Nexus

SNPshotrs121918184
SNPdbers121918184
MSV3drs121918184
GWAS Ctlgrs121918184
Max Magnitude0
OMIM611499
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918184(T;T)
Alt rs121918184(T;T)
Reference rs121918184(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65425959C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000955.5,