rs138025751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138025751(C;C) |
Make rs138025751(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240869357 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs138025751 |
dbSNP (classic) | rs138025751 |
ClinGen | rs138025751 |
ebi | rs138025751 |
HLI | rs138025751 |
Exac | rs138025751 |
Gnomad | rs138025751 |
Varsome | rs138025751 |
LitVar | rs138025751 |
Map | rs138025751 |
PheGenI | rs138025751 |
Biobank | rs138025751 |
1000 genomes | rs138025751 |
hgdp | rs138025751 |
ensembl | rs138025751 |
geneview | rs138025751 |
scholar | rs138025751 |
rs138025751 | |
pharmgkb | rs138025751 |
gwascentral | rs138025751 |
openSNP | rs138025751 |
23andMe | rs138025751 |
SNPshot | rs138025751 |
SNPdbe | rs138025751 |
MSV3d | rs138025751 |
GWAS Ctlg | rs138025751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138025751(A;A) rs138025751(C;C) |
Alt | rs138025751(A;A) rs138025751(C;C) |
Reference | Rs138025751(G;G) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241808774G>A |
CLNSRC | |
CLNACC | RCV000186302.1, |