rs756437332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs756437332(C;T) |
Make rs756437332(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 240878093 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs756437332 |
dbSNP (classic) | rs756437332 |
ClinGen | rs756437332 |
ebi | rs756437332 |
HLI | rs756437332 |
Exac | rs756437332 |
Gnomad | rs756437332 |
Varsome | rs756437332 |
LitVar | rs756437332 |
Map | rs756437332 |
PheGenI | rs756437332 |
Biobank | rs756437332 |
1000 genomes | rs756437332 |
hgdp | rs756437332 |
ensembl | rs756437332 |
geneview | rs756437332 |
scholar | rs756437332 |
rs756437332 | |
pharmgkb | rs756437332 |
gwascentral | rs756437332 |
openSNP | rs756437332 |
23andMe | rs756437332 |
SNPshot | rs756437332 |
SNPdbe | rs756437332 |
MSV3d | rs756437332 |
GWAS Ctlg | rs756437332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756437332(G;G) rs756437332(T;T) |
Alt | rs756437332(G;G) rs756437332(T;T) |
Reference | Rs756437332(C;C) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241817510C>G |
CLNSRC | |
CLNACC | RCV000186351.1, |