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rs121918182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918182(C;C)
Make rs121918182(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position65974934
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918182
ebirs121918182
HLIrs121918182
Exacrs121918182
Varsomers121918182
Maprs121918182
PheGenIrs121918182
hapmaprs121918182
1000 genomesrs121918182
hgdprs121918182
ensemblrs121918182
gopubmedrs121918182
geneviewrs121918182
scholarrs121918182
googlers121918182
pharmgkbrs121918182
gwascentralrs121918182
openSNPrs121918182
23andMers121918182
23andMe allrs121918182
SNP Nexus

SNPshotrs121918182
SNPdbers121918182
MSV3drs121918182
GWAS Ctlgrs121918182
GMAF0.0004591
Max Magnitude0
OMIM611499
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918182(A,C;A,C)
Alt rs121918182(A,C;A,C)
Reference rs121918182(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65439921C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000954.5,