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rs72555369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72555369(A;C)
Make rs72555369(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position33021576
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555369
ebirs72555369
HLIrs72555369
Exacrs72555369
Varsomers72555369
Maprs72555369
PheGenIrs72555369
hapmaprs72555369
1000 genomesrs72555369
hgdprs72555369
ensemblrs72555369
gopubmedrs72555369
geneviewrs72555369
scholarrs72555369
googlers72555369
pharmgkbrs72555369
gwascentralrs72555369
openSNPrs72555369
23andMers72555369
23andMe allrs72555369
SNP Nexus

SNPshotrs72555369
SNPdbers72555369
MSV3drs72555369
GWAS Ctlgrs72555369
Max Magnitude0
OMIM611458
Desc
Variant0021
Relatedalso


ClinVar
Risk rs72555369(C;C)
Alt rs72555369(C;C)
Reference rs72555369(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33063068T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000992.3,