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rs121918185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918185(C;T)
Make rs121918185(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65974701
GeneGUSB
is asnp
is mentioned by
dbSNPrs121918185
ebirs121918185
HLIrs121918185
Exacrs121918185
Varsomers121918185
Maprs121918185
PheGenIrs121918185
hapmaprs121918185
1000 genomesrs121918185
hgdprs121918185
ensemblrs121918185
gopubmedrs121918185
geneviewrs121918185
scholarrs121918185
googlers121918185
pharmgkbrs121918185
gwascentralrs121918185
openSNPrs121918185
23andMers121918185
23andMe allrs121918185
SNP Nexus

SNPshotrs121918185
SNPdbers121918185
MSV3drs121918185
GWAS Ctlgrs121918185
Max Magnitude0
OMIM611499
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121918185(T;T)
Alt rs121918185(T;T)
Reference rs121918185(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.65439688G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000956.5, RCV000170582.1,