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rs121918180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918180(A;A)
Make rs121918180(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position65974348
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918180
ebirs121918180
HLIrs121918180
Exacrs121918180
Varsomers121918180
Maprs121918180
PheGenIrs121918180
hapmaprs121918180
1000 genomesrs121918180
hgdprs121918180
ensemblrs121918180
gopubmedrs121918180
geneviewrs121918180
scholarrs121918180
googlers121918180
pharmgkbrs121918180
gwascentralrs121918180
openSNPrs121918180
23andMers121918180
23andMe allrs121918180
SNP Nexus

SNPshotrs121918180
SNPdbers121918180
MSV3drs121918180
GWAS Ctlgrs121918180
Max Magnitude0
OMIM611499
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918180(A;A)
Alt rs121918180(A;A)
Reference rs121918180(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65439335C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000952.4,