rs786204545
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204545(A;A) |
Make rs786204545(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 240875180 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs786204545 |
dbSNP (classic) | rs786204545 |
ClinGen | rs786204545 |
ebi | rs786204545 |
HLI | rs786204545 |
Exac | rs786204545 |
Gnomad | rs786204545 |
Varsome | rs786204545 |
LitVar | rs786204545 |
Map | rs786204545 |
PheGenI | rs786204545 |
Biobank | rs786204545 |
1000 genomes | rs786204545 |
hgdp | rs786204545 |
ensembl | rs786204545 |
geneview | rs786204545 |
scholar | rs786204545 |
rs786204545 | |
pharmgkb | rs786204545 |
gwascentral | rs786204545 |
openSNP | rs786204545 |
23andMe | rs786204545 |
SNPshot | rs786204545 |
SNPdbe | rs786204545 |
MSV3d | rs786204545 |
GWAS Ctlg | rs786204545 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204545(A;A) |
Alt | rs786204545(A;A) |
Reference | Rs786204545(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241814597G>A |
CLNSRC | |
CLNACC | RCV000169258.1, |