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rs797045010

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045010(A;A)
Make rs797045010(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position33024297
GeneGLB1
is asnp
is mentioned by
dbSNPrs797045010
ebirs797045010
HLIrs797045010
Exacrs797045010
Varsomers797045010
Maprs797045010
PheGenIrs797045010
hapmaprs797045010
1000 genomesrs797045010
hgdprs797045010
ensemblrs797045010
gopubmedrs797045010
geneviewrs797045010
scholarrs797045010
googlers797045010
pharmgkbrs797045010
gwascentralrs797045010
openSNPrs797045010
23andMers797045010
23andMe allrs797045010
SNP Nexus

SNPshotrs797045010
SNPdbers797045010
MSV3drs797045010
GWAS Ctlgrs797045010
Max Magnitude0
ClinVar
Risk rs797045010(A;A)
Alt rs797045010(A;A)
Reference rs797045010(C;C)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33065789G>T
CLNSRC
CLNACC RCV000190508.2,