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rs121918181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918181(C;T)
Make rs121918181(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position65979782
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918181
ebirs121918181
HLIrs121918181
Exacrs121918181
Varsomers121918181
Maprs121918181
PheGenIrs121918181
hapmaprs121918181
1000 genomesrs121918181
hgdprs121918181
ensemblrs121918181
gopubmedrs121918181
geneviewrs121918181
scholarrs121918181
googlers121918181
pharmgkbrs121918181
gwascentralrs121918181
openSNPrs121918181
23andMers121918181
23andMe allrs121918181
SNP Nexus

SNPshotrs121918181
SNPdbers121918181
MSV3drs121918181
GWAS Ctlgrs121918181
Max Magnitude0
OMIM611499
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918181(T;T)
Alt rs121918181(T;T)
Reference rs121918181(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII not provided
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII not provided
Reversed 1
HGVS NC_000007.13:g.65444769G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000953.6, RCV000078330.3,