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rs28934886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28934886(A;A)
Make rs28934886(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33016818
GeneGLB1
is asnp
is mentioned by
dbSNPrs28934886
ebirs28934886
HLIrs28934886
Exacrs28934886
Varsomers28934886
Maprs28934886
PheGenIrs28934886
hapmaprs28934886
1000 genomesrs28934886
hgdprs28934886
ensemblrs28934886
gopubmedrs28934886
geneviewrs28934886
scholarrs28934886
googlers28934886
pharmgkbrs28934886
gwascentralrs28934886
openSNPrs28934886
23andMers28934886
23andMe allrs28934886
SNP Nexus

SNPshotrs28934886
SNPdbers28934886
MSV3drs28934886
GWAS Ctlgrs28934886
Max Magnitude0
OMIM230500
DescGM1-GANGLIOSIDOSIS, ADULT/CHRONIC TYPE
Variant0008
Relatedalso
OMIM611458
Desc
Variant0008
Relatedalso


ClinVar
Risk rs28934886(A;A)
Alt rs28934886(A;A)
Reference rs28934886(G;G)
Significance Pathogenic
Disease Gangliosidosis GM1 type 3
Variation info
Gene TMPPE GLB1
CLNDBN Gangliosidosis GM1 type 3
Reversed 1
HGVS NC_000003.11:g.33058310C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000978.2,