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rs180869784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180869784(A;A)
Make rs180869784(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position33018510
GeneGLB1, LOC107986073
is asnp
is mentioned by
dbSNPrs180869784
dbSNP (old)rs180869784
ClinGenrs180869784
ebirs180869784
HLIrs180869784
Exacrs180869784
Gnomadrs180869784
Varsomers180869784
Maprs180869784
PheGenIrs180869784
Biobankrs180869784
1000 genomesrs180869784
hgdprs180869784
ensemblrs180869784
gopubmedrs180869784
geneviewrs180869784
scholarrs180869784
googlers180869784
pharmgkbrs180869784
gwascentralrs180869784
openSNPrs180869784
23andMers180869784
23andMe allrs180869784
SNP Nexus

SNPshotrs180869784
SNPdbers180869784
MSV3drs180869784
GWAS Ctlgrs180869784
Max Magnitude0
ClinVar
Risk rs180869784(A;A)
Alt rs180869784(A;A)
Reference Rs180869784(G;G)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 0
HGVS NC_000003.11:g.33060002G>A
CLNSRC
CLNACC RCV000190508.2,