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rs72555361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72555361(A;G)
Make rs72555361(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33051766
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555361
ebirs72555361
HLIrs72555361
Exacrs72555361
Varsomers72555361
Maprs72555361
PheGenIrs72555361
hapmaprs72555361
1000 genomesrs72555361
hgdprs72555361
ensemblrs72555361
gopubmedrs72555361
geneviewrs72555361
scholarrs72555361
googlers72555361
pharmgkbrs72555361
gwascentralrs72555361
openSNPrs72555361
23andMers72555361
23andMe allrs72555361
SNP Nexus

SNPshotrs72555361
SNPdbers72555361
MSV3drs72555361
GWAS Ctlgrs72555361
Max Magnitude0
OMIM611458
Desc
Variant0007
Relatedalso


ClinVar
Risk rs72555361(G;G)
Alt rs72555361(G;G)
Reference rs72555361(A;A)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33093258T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000977.2,