rs536352238
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs536352238(C;C) |
Make rs536352238(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 240873987 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs536352238 |
dbSNP (classic) | rs536352238 |
ClinGen | rs536352238 |
ebi | rs536352238 |
HLI | rs536352238 |
Exac | rs536352238 |
Gnomad | rs536352238 |
Varsome | rs536352238 |
LitVar | rs536352238 |
Map | rs536352238 |
PheGenI | rs536352238 |
Biobank | rs536352238 |
1000 genomes | rs536352238 |
hgdp | rs536352238 |
ensembl | rs536352238 |
geneview | rs536352238 |
scholar | rs536352238 |
rs536352238 | |
pharmgkb | rs536352238 |
gwascentral | rs536352238 |
openSNP | rs536352238 |
23andMe | rs536352238 |
SNPshot | rs536352238 |
SNPdbe | rs536352238 |
MSV3d | rs536352238 |
GWAS Ctlg | rs536352238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs536352238(A;A) rs536352238(C;C) |
Alt | rs536352238(A;A) rs536352238(C;C) |
Reference | Rs536352238(T;T) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241813404T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186322.1, |