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rs121918173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918173(C;T)
Make rs121918173(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65974626
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918173
ebirs121918173
HLIrs121918173
Exacrs121918173
Varsomers121918173
Maprs121918173
PheGenIrs121918173
hapmaprs121918173
1000 genomesrs121918173
hgdprs121918173
ensemblrs121918173
gopubmedrs121918173
geneviewrs121918173
scholarrs121918173
googlers121918173
pharmgkbrs121918173
gwascentralrs121918173
openSNPrs121918173
23andMers121918173
23andMe allrs121918173
SNP Nexus

SNPshotrs121918173
SNPdbers121918173
MSV3drs121918173
GWAS Ctlgrs121918173
Max Magnitude0
OMIM611499
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918173(T;T)
Alt rs121918173(T;T)
Reference rs121918173(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII Non-immune hydrops fetalis
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII Non-immune hydrops fetalis
Reversed 1
HGVS NC_000007.13:g.65439613G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000942.4, RCV000170573.1,