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rs794726886

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726886(A;C)
Make rs794726886(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position33097085
GeneGLB1, TMPPE
is asnp
is mentioned by
dbSNPrs794726886
ebirs794726886
HLIrs794726886
Exacrs794726886
Varsomers794726886
Maprs794726886
PheGenIrs794726886
hapmaprs794726886
1000 genomesrs794726886
hgdprs794726886
ensemblrs794726886
gopubmedrs794726886
geneviewrs794726886
scholarrs794726886
googlers794726886
pharmgkbrs794726886
gwascentralrs794726886
openSNPrs794726886
23andMers794726886
23andMe allrs794726886
SNP Nexus

SNPshotrs794726886
SNPdbers794726886
MSV3drs794726886
GWAS Ctlgrs794726886
Max Magnitude0
ClinVar
Risk rs794726886(C;C)
Alt rs794726886(C;C)
Reference rs794726886(A;A)
Significance Probable-Pathogenic
Disease Infantile GM1 gangliosidosis GM1 gangliosidosis type 2
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis GM1 gangliosidosis type 2
Reversed 1
HGVS NC_000003.11:g.33138577T>G
CLNSRC
CLNACC RCV000173126.1, RCV000173127.1,