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rs121918178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918178(A;G)
Make rs121918178(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position65967900
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918178
ebirs121918178
HLIrs121918178
Exacrs121918178
Varsomers121918178
Maprs121918178
PheGenIrs121918178
hapmaprs121918178
1000 genomesrs121918178
hgdprs121918178
ensemblrs121918178
gopubmedrs121918178
geneviewrs121918178
scholarrs121918178
googlers121918178
pharmgkbrs121918178
gwascentralrs121918178
openSNPrs121918178
23andMers121918178
23andMe allrs121918178
SNP Nexus

SNPshotrs121918178
SNPdbers121918178
MSV3drs121918178
GWAS Ctlgrs121918178
Max Magnitude0
OMIM611499
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918178(G;G)
Alt rs121918178(G;G)
Reference rs121918178(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65432887T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000947.4,