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rs72555365

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72555365(C;T)
Make rs72555365(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33016744
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555365
ebirs72555365
HLIrs72555365
Exacrs72555365
Varsomers72555365
Maprs72555365
PheGenIrs72555365
hapmaprs72555365
1000 genomesrs72555365
hgdprs72555365
ensemblrs72555365
gopubmedrs72555365
geneviewrs72555365
scholarrs72555365
googlers72555365
pharmgkbrs72555365
gwascentralrs72555365
openSNPrs72555365
23andMers72555365
23andMe allrs72555365
SNP Nexus

SNPshotrs72555365
SNPdbers72555365
MSV3drs72555365
GWAS Ctlgrs72555365
Max Magnitude0
OMIM611458
Desc
Variant0016
Relatedalso


ClinVar
Risk rs72555365(T;T)
Alt rs72555365(T;T)
Reference rs72555365(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33058236G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119100.2,