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rs794726973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726973(A;A)
Make rs794726973(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position65967850
GeneGUSB
is asnp
is mentioned by
dbSNPrs794726973
dbSNP (classic)rs794726973
ClinGenrs794726973
ebirs794726973
HLIrs794726973
Exacrs794726973
Gnomadrs794726973
Varsomers794726973
LitVarrs794726973
Maprs794726973
PheGenIrs794726973
Biobankrs794726973
1000 genomesrs794726973
hgdprs794726973
ensemblrs794726973
geneviewrs794726973
scholarrs794726973
googlers794726973
pharmgkbrs794726973
gwascentralrs794726973
openSNPrs794726973
23andMers794726973
SNPshotrs794726973
SNPdbers794726973
MSV3drs794726973
GWAS Ctlgrs794726973
Max Magnitude0
ClinVar
Risk rs794726973(A;A)
Alt rs794726973(A;A)
Reference Rs794726973(G;G)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65432837C>T
CLNSRC
CLNACC RCV000173654.1,