rs180177194
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs180177194(AT;AT) |
Make rs180177194(AT;TG) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240868867 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs180177194 |
dbSNP (classic) | rs180177194 |
ClinGen | rs180177194 |
ebi | rs180177194 |
HLI | rs180177194 |
Exac | rs180177194 |
Gnomad | rs180177194 |
Varsome | rs180177194 |
LitVar | rs180177194 |
Map | rs180177194 |
PheGenI | rs180177194 |
Biobank | rs180177194 |
1000 genomes | rs180177194 |
hgdp | rs180177194 |
ensembl | rs180177194 |
geneview | rs180177194 |
scholar | rs180177194 |
rs180177194 | |
pharmgkb | rs180177194 |
gwascentral | rs180177194 |
openSNP | rs180177194 |
23andMe | rs180177194 |
SNPshot | rs180177194 |
SNPdbe | rs180177194 |
MSV3d | rs180177194 |
GWAS Ctlg | rs180177194 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177194(AT;AT) |
Alt | rs180177194(AT;AT) |
Reference | Rs180177194(TG;TG) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241808284_241808285delTGinsAT |
CLNSRC | |
CLNACC | RCV000186379.1, |