rs398123348
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs398123348(-;-) |
Make rs398123348(-;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 33021624 |
Gene | GLB1, LOC107986073 |
is a | snp |
is | mentioned by |
dbSNP | rs398123348 |
dbSNP (classic) | rs398123348 |
ClinGen | rs398123348 |
ebi | rs398123348 |
HLI | rs398123348 |
Exac | rs398123348 |
Gnomad | rs398123348 |
Varsome | rs398123348 |
LitVar | rs398123348 |
Map | rs398123348 |
PheGenI | rs398123348 |
Biobank | rs398123348 |
1000 genomes | rs398123348 |
hgdp | rs398123348 |
ensembl | rs398123348 |
geneview | rs398123348 |
scholar | rs398123348 |
rs398123348 | |
pharmgkb | rs398123348 |
gwascentral | rs398123348 |
openSNP | rs398123348 |
23andMe | rs398123348 |
SNPshot | rs398123348 |
SNPdbe | rs398123348 |
MSV3d | rs398123348 |
GWAS Ctlg | rs398123348 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123348(-;-) |
Alt | rs398123348(-;-) |
Reference | Rs398123348(CT;CT) |
Significance | Pathogenic |
Disease | not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis |
Reversed | 1 |
HGVS | NC_000003.11:g.33063116_33063117delAG |
CLNSRC | ClinVar |
CLNACC | RCV000078699.3, RCV000174241.1, RCV000174242.1, RCV000174243.1, RCV000174244.1, |