rs180177264
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs180177264(C;C) |
Make rs180177264(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240875185 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs180177264 |
dbSNP (classic) | rs180177264 |
ClinGen | rs180177264 |
ebi | rs180177264 |
HLI | rs180177264 |
Exac | rs180177264 |
Gnomad | rs180177264 |
Varsome | rs180177264 |
LitVar | rs180177264 |
Map | rs180177264 |
PheGenI | rs180177264 |
Biobank | rs180177264 |
1000 genomes | rs180177264 |
hgdp | rs180177264 |
ensembl | rs180177264 |
geneview | rs180177264 |
scholar | rs180177264 |
rs180177264 | |
pharmgkb | rs180177264 |
gwascentral | rs180177264 |
openSNP | rs180177264 |
23andMe | rs180177264 |
SNPshot | rs180177264 |
SNPdbe | rs180177264 |
MSV3d | rs180177264 |
GWAS Ctlg | rs180177264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177264(C;C) |
Alt | rs180177264(C;C) |
Reference | Rs180177264(T;T) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241814602T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186332.1, |