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rs794729217

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794729217(-;-)
Make rs794729217(-;G)
Make rs794729217(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position33014217
GeneGLB1
is asnp
is mentioned by
dbSNPrs794729217
ebirs794729217
HLIrs794729217
Exacrs794729217
Varsomers794729217
Maprs794729217
PheGenIrs794729217
hapmaprs794729217
1000 genomesrs794729217
hgdprs794729217
ensemblrs794729217
gopubmedrs794729217
geneviewrs794729217
scholarrs794729217
googlers794729217
pharmgkbrs794729217
gwascentralrs794729217
openSNPrs794729217
23andMers794729217
23andMe allrs794729217
SNP Nexus

SNPshotrs794729217
SNPdbers794729217
MSV3drs794729217
GWAS Ctlgrs794729217
Max Magnitude0
ClinVar
Risk rs794729217(G;G)
Alt rs794729217(G;G)
Reference rs794729217(;)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33055710dupC
CLNSRC
CLNACC RCV000184037.1,