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rs398123350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123350(C;G)
Make rs398123350(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33072618
GeneGLB1
is asnp
is mentioned by
dbSNPrs398123350
ebirs398123350
HLIrs398123350
Exacrs398123350
Varsomers398123350
Maprs398123350
PheGenIrs398123350
hapmaprs398123350
1000 genomesrs398123350
hgdprs398123350
ensemblrs398123350
gopubmedrs398123350
geneviewrs398123350
scholarrs398123350
googlers398123350
pharmgkbrs398123350
gwascentralrs398123350
openSNPrs398123350
23andMers398123350
23andMe allrs398123350
SNP Nexus

SNPshotrs398123350
SNPdbers398123350
MSV3drs398123350
GWAS Ctlgrs398123350
Max Magnitude0
ClinVar
Risk rs398123350(G,T;G,T)
Alt rs398123350(G,T;G,T)
Reference rs398123350(C;C)
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.33114110G>C
CLNSRC HGMD
CLNACC RCV000078706.3, RCV000175602.1, RCV000175603.1, RCV000175604.1, RCV000175605.1,