rs180177227
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs180177227(A;A) |
Make rs180177227(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240871406 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs180177227 |
dbSNP (classic) | rs180177227 |
ClinGen | rs180177227 |
ebi | rs180177227 |
HLI | rs180177227 |
Exac | rs180177227 |
Gnomad | rs180177227 |
Varsome | rs180177227 |
LitVar | rs180177227 |
Map | rs180177227 |
PheGenI | rs180177227 |
Biobank | rs180177227 |
1000 genomes | rs180177227 |
hgdp | rs180177227 |
ensembl | rs180177227 |
geneview | rs180177227 |
scholar | rs180177227 |
rs180177227 | |
pharmgkb | rs180177227 |
gwascentral | rs180177227 |
openSNP | rs180177227 |
23andMe | rs180177227 |
SNPshot | rs180177227 |
SNPdbe | rs180177227 |
MSV3d | rs180177227 |
GWAS Ctlg | rs180177227 |
Merged from | Rs180177228, Rs180177229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177227(A;A) rs180177227(C;C) rs180177227(T;T) |
Alt | rs180177227(A;A) rs180177227(C;C) rs180177227(T;T) |
Reference | Rs180177227(G;G) |
Significance | Other |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241810823G>A; NC_000002.11:g.241810823G>C; NC_000002.11:g.241810823G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186311.1, RCV000186312.1, RCV000169046.2, |