rs797045010
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797045010(A;A) |
Make rs797045010(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 33024297 |
Gene | GLB1, LOC107986073 |
is a | snp |
is | mentioned by |
dbSNP | rs797045010 |
dbSNP (classic) | rs797045010 |
ClinGen | rs797045010 |
ebi | rs797045010 |
HLI | rs797045010 |
Exac | rs797045010 |
Gnomad | rs797045010 |
Varsome | rs797045010 |
LitVar | rs797045010 |
Map | rs797045010 |
PheGenI | rs797045010 |
Biobank | rs797045010 |
1000 genomes | rs797045010 |
hgdp | rs797045010 |
ensembl | rs797045010 |
geneview | rs797045010 |
scholar | rs797045010 |
rs797045010 | |
pharmgkb | rs797045010 |
gwascentral | rs797045010 |
openSNP | rs797045010 |
23andMe | rs797045010 |
SNPshot | rs797045010 |
SNPdbe | rs797045010 |
MSV3d | rs797045010 |
GWAS Ctlg | rs797045010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045010(A;A) |
Alt | rs797045010(A;A) |
Reference | Rs797045010(C;C) |
Significance | Probable-Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | Mucopolysaccharidosis, MPS-IV-B |
Reversed | 1 |
HGVS | NC_000003.11:g.33065789G>T |
CLNSRC | |
CLNACC | RCV000190508.2, |