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rs398123347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123347(C;T)
Make rs398123347(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33046184
GeneGLB1
is asnp
is mentioned by
dbSNPrs398123347
ebirs398123347
HLIrs398123347
Exacrs398123347
Varsomers398123347
Maprs398123347
PheGenIrs398123347
hapmaprs398123347
1000 genomesrs398123347
hgdprs398123347
ensemblrs398123347
gopubmedrs398123347
geneviewrs398123347
scholarrs398123347
googlers398123347
pharmgkbrs398123347
gwascentralrs398123347
openSNPrs398123347
23andMers398123347
23andMe allrs398123347
SNP Nexus

SNPshotrs398123347
SNPdbers398123347
MSV3drs398123347
GWAS Ctlgrs398123347
Max Magnitude0
ClinVar
Risk rs398123347(T;T)
Alt rs398123347(T;T)
Reference rs398123347(C;C)
Significance Probable-Pathogenic
Disease not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis Gangliosidosis GM1 type 3
Variation info
Gene TMPPE GLB1
CLNDBN not provided GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3
Reversed 1
HGVS NC_000003.11:g.33087676G>A
CLNSRC ClinVar Emory University
CLNACC RCV000078698.3, RCV000173683.1, RCV000173684.1, RCV000173685.1, RCV000173686.1,