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rs121918183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918183(G;T)
Make rs121918183(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65964382
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918183
ebirs121918183
HLIrs121918183
Exacrs121918183
Varsomers121918183
Maprs121918183
PheGenIrs121918183
hapmaprs121918183
1000 genomesrs121918183
hgdprs121918183
ensemblrs121918183
gopubmedrs121918183
geneviewrs121918183
scholarrs121918183
googlers121918183
pharmgkbrs121918183
gwascentralrs121918183
openSNPrs121918183
23andMers121918183
23andMe allrs121918183
SNP Nexus

SNPshotrs121918183
SNPdbers121918183
MSV3drs121918183
GWAS Ctlgrs121918183
Max Magnitude0
OMIM611499
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918183(T;T)
Alt rs121918183(T;T)
Reference rs121918183(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65429369C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000950.5,