rs180177238
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs180177238(C;T) |
Make rs180177238(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240873014 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs180177238 |
dbSNP (classic) | rs180177238 |
ClinGen | rs180177238 |
ebi | rs180177238 |
HLI | rs180177238 |
Exac | rs180177238 |
Gnomad | rs180177238 |
Varsome | rs180177238 |
LitVar | rs180177238 |
Map | rs180177238 |
PheGenI | rs180177238 |
Biobank | rs180177238 |
1000 genomes | rs180177238 |
hgdp | rs180177238 |
ensembl | rs180177238 |
geneview | rs180177238 |
scholar | rs180177238 |
rs180177238 | |
pharmgkb | rs180177238 |
gwascentral | rs180177238 |
openSNP | rs180177238 |
23andMe | rs180177238 |
SNPshot | rs180177238 |
SNPdbe | rs180177238 |
MSV3d | rs180177238 |
GWAS Ctlg | rs180177238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177238(T;T) |
Alt | rs180177238(T;T) |
Reference | Rs180177238(C;C) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241812431C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000128801.3, |