rs180869784
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs180869784(A;A) |
Make rs180869784(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 33018510 |
Gene | GLB1, LOC107986073 |
is a | snp |
is | mentioned by |
dbSNP | rs180869784 |
dbSNP (classic) | rs180869784 |
ClinGen | rs180869784 |
ebi | rs180869784 |
HLI | rs180869784 |
Exac | rs180869784 |
Gnomad | rs180869784 |
Varsome | rs180869784 |
LitVar | rs180869784 |
Map | rs180869784 |
PheGenI | rs180869784 |
Biobank | rs180869784 |
1000 genomes | rs180869784 |
hgdp | rs180869784 |
ensembl | rs180869784 |
geneview | rs180869784 |
scholar | rs180869784 |
rs180869784 | |
pharmgkb | rs180869784 |
gwascentral | rs180869784 |
openSNP | rs180869784 |
23andMe | rs180869784 |
SNPshot | rs180869784 |
SNPdbe | rs180869784 |
MSV3d | rs180869784 |
GWAS Ctlg | rs180869784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180869784(A;A) |
Alt | rs180869784(A;A) |
Reference | Rs180869784(G;G) |
Significance | Probable-Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | Mucopolysaccharidosis, MPS-IV-B |
Reversed | 0 |
HGVS | NC_000003.11:g.33060002G>A |
CLNSRC | |
CLNACC | RCV000190508.2, |