Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727249

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727249(-;-)
Make rs794727249(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position33072620
GeneGLB1
is asnp
is mentioned by
dbSNPrs794727249
ebirs794727249
HLIrs794727249
Exacrs794727249
Varsomers794727249
Maprs794727249
PheGenIrs794727249
hapmaprs794727249
1000 genomesrs794727249
hgdprs794727249
ensemblrs794727249
gopubmedrs794727249
geneviewrs794727249
scholarrs794727249
googlers794727249
pharmgkbrs794727249
gwascentralrs794727249
openSNPrs794727249
23andMers794727249
23andMe allrs794727249
SNP Nexus

SNPshotrs794727249
SNPdbers794727249
MSV3drs794727249
GWAS Ctlgrs794727249
Max Magnitude0
ClinVar
Risk rs794727249(;)
Alt rs794727249(;)
Reference rs794727249(T;T)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Gangliosidosis GM1 type 3
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Gangliosidosis GM1 type 3
Reversed 1
HGVS NC_000003.11:g.33114112delA
CLNSRC
CLNACC RCV000175596.1, RCV000175597.1, RCV000175598.1,