rs572237881
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs572237881(C;T) |
Make rs572237881(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 33072586 |
Gene | GLB1 |
is a | snp |
is | mentioned by |
dbSNP | rs572237881 |
dbSNP (classic) | rs572237881 |
ClinGen | rs572237881 |
ebi | rs572237881 |
HLI | rs572237881 |
Exac | rs572237881 |
Gnomad | rs572237881 |
Varsome | rs572237881 |
LitVar | rs572237881 |
Map | rs572237881 |
PheGenI | rs572237881 |
Biobank | rs572237881 |
1000 genomes | rs572237881 |
hgdp | rs572237881 |
ensembl | rs572237881 |
geneview | rs572237881 |
scholar | rs572237881 |
rs572237881 | |
pharmgkb | rs572237881 |
gwascentral | rs572237881 |
openSNP | rs572237881 |
23andMe | rs572237881 |
SNPshot | rs572237881 |
SNPdbe | rs572237881 |
MSV3d | rs572237881 |
GWAS Ctlg | rs572237881 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs572237881(T;T) |
Alt | rs572237881(T;T) |
Reference | Rs572237881(C;C) |
Significance | Pathogenic |
Disease | Infantile GM1 gangliosidosis |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | Infantile GM1 gangliosidosis |
Reversed | 0 |
HGVS | NC_000003.11:g.33114078C>T |
CLNSRC | |
CLNACC | RCV000175606.1, |