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rs794727165

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727165(C;T)
Make rs794727165(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position32997311
GeneGLB1
is asnp
is mentioned by
dbSNPrs794727165
ebirs794727165
HLIrs794727165
Exacrs794727165
Varsomers794727165
Maprs794727165
PheGenIrs794727165
hapmaprs794727165
1000 genomesrs794727165
hgdprs794727165
ensemblrs794727165
gopubmedrs794727165
geneviewrs794727165
scholarrs794727165
googlers794727165
pharmgkbrs794727165
gwascentralrs794727165
openSNPrs794727165
23andMers794727165
23andMe allrs794727165
SNP Nexus

SNPshotrs794727165
SNPdbers794727165
MSV3drs794727165
GWAS Ctlgrs794727165
Max Magnitude0
ClinVar
Risk rs794727165(T;T)
Alt rs794727165(T;T)
Reference rs794727165(C;C)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis Gangliosidosis GM1 type 3
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3
Reversed 1
HGVS NC_000003.11:g.33038803G>A
CLNSRC
CLNACC RCV000175003.1, RCV000175004.1, RCV000175005.1, RCV000175006.1,