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

rs72555393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs72555393(C;T)
Make rs72555393(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33072544
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555393
ebirs72555393
HLIrs72555393
Exacrs72555393
Varsomers72555393
Maprs72555393
PheGenIrs72555393
hapmaprs72555393
1000 genomesrs72555393
hgdprs72555393
ensemblrs72555393
gopubmedrs72555393
geneviewrs72555393
scholarrs72555393
googlers72555393
pharmgkbrs72555393
gwascentralrs72555393
openSNPrs72555393
23andMers72555393
23andMe allrs72555393
SNP Nexus

SNPshotrs72555393
SNPdbers72555393
MSV3drs72555393
GWAS Ctlgrs72555393
Merged fromRs118203930
Max Magnitude0
ClinVar
Risk rs72555393(T;T)
Alt rs72555393(T;T)
Reference rs72555393(C;C)
Significance Pathogenic
Disease Gangliosidosis GM1 type 3 Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Gangliosidosis GM1 type 3 Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33114036G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000984.2, RCV000196532.1,



[PMID 8198123OA-icon.png] Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.