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rs572237881

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs572237881(C;T)
Make rs572237881(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33072586
GeneGLB1
is asnp
is mentioned by
dbSNPrs572237881
ebirs572237881
HLIrs572237881
Exacrs572237881
Varsomers572237881
Maprs572237881
PheGenIrs572237881
hapmaprs572237881
1000 genomesrs572237881
hgdprs572237881
ensemblrs572237881
gopubmedrs572237881
geneviewrs572237881
scholarrs572237881
googlers572237881
pharmgkbrs572237881
gwascentralrs572237881
openSNPrs572237881
23andMers572237881
23andMe allrs572237881
SNP Nexus

SNPshotrs572237881
SNPdbers572237881
MSV3drs572237881
GWAS Ctlgrs572237881
Max Magnitude0
ClinVar
Risk rs572237881(T;T)
Alt rs572237881(T;T)
Reference rs572237881(C;C)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 0
HGVS NC_000003.11:g.33114078C>T
CLNSRC
CLNACC RCV000175606.1,