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rs121918179

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918179(A;A)
Make rs121918179(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position65967863
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918179
ebirs121918179
HLIrs121918179
Exacrs121918179
Varsomers121918179
Maprs121918179
PheGenIrs121918179
hapmaprs121918179
1000 genomesrs121918179
hgdprs121918179
ensemblrs121918179
gopubmedrs121918179
geneviewrs121918179
scholarrs121918179
googlers121918179
pharmgkbrs121918179
gwascentralrs121918179
openSNPrs121918179
23andMers121918179
23andMe allrs121918179
SNP Nexus

SNPshotrs121918179
SNPdbers121918179
MSV3drs121918179
GWAS Ctlgrs121918179
Max Magnitude0
OMIM611499
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918179(A;A)
Alt rs121918179(A;A)
Reference rs121918179(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65432850C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000948.4,