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rs398123351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123351(A;A)
Make rs398123351(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position32997310
GeneGLB1
is asnp
is mentioned by
dbSNPrs398123351
ebirs398123351
HLIrs398123351
Exacrs398123351
Varsomers398123351
Maprs398123351
PheGenIrs398123351
hapmaprs398123351
1000 genomesrs398123351
hgdprs398123351
ensemblrs398123351
gopubmedrs398123351
geneviewrs398123351
scholarrs398123351
googlers398123351
pharmgkbrs398123351
gwascentralrs398123351
openSNPrs398123351
23andMers398123351
23andMe allrs398123351
SNP Nexus

SNPshotrs398123351
SNPdbers398123351
MSV3drs398123351
GWAS Ctlgrs398123351
Max Magnitude0
ClinVar
Risk rs398123351(A;A)
Alt rs398123351(A;A)
Reference rs398123351(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33038802C>T
CLNSRC HGMD
CLNACC RCV000078707.3, RCV000174999.1, RCV000175000.1, RCV000175001.1, RCV000175002.1,