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rs72555370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72555370(C;T)
Make rs72555370(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33072587
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555370
ebirs72555370
HLIrs72555370
Exacrs72555370
Varsomers72555370
Maprs72555370
PheGenIrs72555370
hapmaprs72555370
1000 genomesrs72555370
hgdprs72555370
ensemblrs72555370
gopubmedrs72555370
geneviewrs72555370
scholarrs72555370
googlers72555370
pharmgkbrs72555370
gwascentralrs72555370
openSNPrs72555370
23andMers72555370
23andMe allrs72555370
SNP Nexus

SNPshotrs72555370
SNPdbers72555370
MSV3drs72555370
GWAS Ctlgrs72555370
Max Magnitude0
OMIM611458
Desc
Variant0022
Relatedalso


ClinVar
Risk rs72555370(T;T)
Alt rs72555370(T;T)
Reference rs72555370(C;C)
Significance Pathogenic
Disease GM1 gangliosidosis type 2
Variation info
Gene TMPPE GLB1
CLNDBN GM1 gangliosidosis type 2
Reversed 1
HGVS NC_000003.11:g.33114079G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000993.2,