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rs28934274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28934274(A;A)
Make rs28934274(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33068849
GeneGLB1
is asnp
is mentioned by
dbSNPrs28934274
ebirs28934274
HLIrs28934274
Exacrs28934274
Varsomers28934274
Maprs28934274
PheGenIrs28934274
hapmaprs28934274
1000 genomesrs28934274
hgdprs28934274
ensemblrs28934274
gopubmedrs28934274
geneviewrs28934274
scholarrs28934274
googlers28934274
pharmgkbrs28934274
gwascentralrs28934274
openSNPrs28934274
23andMers28934274
23andMe allrs28934274
SNP Nexus

SNPshotrs28934274
SNPdbers28934274
MSV3drs28934274
GWAS Ctlgrs28934274
Max Magnitude0
OMIM230500
DescGM1-GANGLIOSIDOSIS, INFANTILE TYPE
Variant0006
Relatedalso
OMIM611458
Desc
Variant0006
Relatedalso


ClinVar
Risk rs28934274(A;A)
Alt rs28934274(A;A)
Reference rs28934274(G;G)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33110341C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000976.2, RCV000196532.1,