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rs202237232

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202237232(C;C)
Make rs202237232(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33018485
GeneGLB1
is asnp
is mentioned by
dbSNPrs202237232
ebirs202237232
HLIrs202237232
Exacrs202237232
Varsomers202237232
Maprs202237232
PheGenIrs202237232
hapmaprs202237232
1000 genomesrs202237232
hgdprs202237232
ensemblrs202237232
gopubmedrs202237232
geneviewrs202237232
scholarrs202237232
googlers202237232
pharmgkbrs202237232
gwascentralrs202237232
openSNPrs202237232
23andMers202237232
23andMe allrs202237232
SNP Nexus

SNPshotrs202237232
SNPdbers202237232
MSV3drs202237232
GWAS Ctlgrs202237232
Max Magnitude0
ClinVar
Risk rs202237232(A,C,G;A,C,G)
Alt rs202237232(A,C,G;A,C,G)
Reference rs202237232(T;T)
Significance Probable-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 0
HGVS NC_000003.11:g.33059977T>A
CLNSRC
CLNACC RCV000078702.3, RCV000174472.1, RCV000174473.1, RCV000174474.1, RCV000174475.1,