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rs879253739

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253739(C;C)
Make rs879253739(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position33097006
GeneGLB1, TMPPE
is asnp
is mentioned by
dbSNPrs879253739
ebirs879253739
HLIrs879253739
Exacrs879253739
Varsomers879253739
Maprs879253739
PheGenIrs879253739
hapmaprs879253739
1000 genomesrs879253739
hgdprs879253739
ensemblrs879253739
gopubmedrs879253739
geneviewrs879253739
scholarrs879253739
googlers879253739
pharmgkbrs879253739
gwascentralrs879253739
openSNPrs879253739
23andMers879253739
23andMe allrs879253739
SNP Nexus

SNPshotrs879253739
SNPdbers879253739
MSV3drs879253739
GWAS Ctlgrs879253739
Max Magnitude0
ClinVar
Risk rs879253739(C;C)
Alt rs879253739(C;C)
Reference rs879253739(G;G)
Significance Probable-Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33138498C>G
CLNSRC
CLNACC RCV000234894.1,