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rs72555364

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72555364(C;C)
Make rs72555364(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33068969
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555364
ebirs72555364
HLIrs72555364
Exacrs72555364
Varsomers72555364
Maprs72555364
PheGenIrs72555364
hapmaprs72555364
1000 genomesrs72555364
hgdprs72555364
ensemblrs72555364
gopubmedrs72555364
geneviewrs72555364
scholarrs72555364
googlers72555364
pharmgkbrs72555364
gwascentralrs72555364
openSNPrs72555364
23andMers72555364
23andMe allrs72555364
SNP Nexus

SNPshotrs72555364
SNPdbers72555364
MSV3drs72555364
GWAS Ctlgrs72555364
Max Magnitude0
OMIM611458
Desc
Variant0015
Relatedalso


ClinVar
Risk rs72555364(C,G;C,G)
Alt rs72555364(C,G;C,G)
Reference rs72555364(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33110461A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000986.3,