rs72555359
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72555359(C;T) |
Make rs72555359(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 33016819 |
Gene | GLB1, LOC107986073 |
is a | snp |
is | mentioned by |
dbSNP | rs72555359 |
dbSNP (classic) | rs72555359 |
ClinGen | rs72555359 |
ebi | rs72555359 |
HLI | rs72555359 |
Exac | rs72555359 |
Gnomad | rs72555359 |
Varsome | rs72555359 |
LitVar | rs72555359 |
Map | rs72555359 |
PheGenI | rs72555359 |
Biobank | rs72555359 |
1000 genomes | rs72555359 |
hgdp | rs72555359 |
ensembl | rs72555359 |
geneview | rs72555359 |
scholar | rs72555359 |
rs72555359 | |
pharmgkb | rs72555359 |
gwascentral | rs72555359 |
openSNP | rs72555359 |
23andMe | rs72555359 |
SNPshot | rs72555359 |
SNPdbe | rs72555359 |
MSV3d | rs72555359 |
GWAS Ctlg | rs72555359 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72555359(T;T) |
Alt | rs72555359(T;T) |
Reference | Rs72555359(C;C) |
Significance | Pathogenic |
Disease | Infantile GM1 gangliosidosis |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | Infantile GM1 gangliosidosis |
Reversed | 1 |
HGVS | NC_000003.11:g.33058311G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000972.2, |
[PMID 1909089] GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.