rs180177244
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs180177244(G;G) |
Make rs180177244(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240873038 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs180177244 |
dbSNP (classic) | rs180177244 |
ClinGen | rs180177244 |
ebi | rs180177244 |
HLI | rs180177244 |
Exac | rs180177244 |
Gnomad | rs180177244 |
Varsome | rs180177244 |
LitVar | rs180177244 |
Map | rs180177244 |
PheGenI | rs180177244 |
Biobank | rs180177244 |
1000 genomes | rs180177244 |
hgdp | rs180177244 |
ensembl | rs180177244 |
geneview | rs180177244 |
scholar | rs180177244 |
rs180177244 | |
pharmgkb | rs180177244 |
gwascentral | rs180177244 |
openSNP | rs180177244 |
23andMe | rs180177244 |
SNPshot | rs180177244 |
SNPdbe | rs180177244 |
MSV3d | rs180177244 |
GWAS Ctlg | rs180177244 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177244(G;G) |
Alt | rs180177244(G;G) |
Reference | Rs180177244(T;T) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241812455T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186319.1, |