rs138584408
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs138584408(C;C) |
Make rs138584408(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240868867 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs138584408 |
dbSNP (classic) | rs138584408 |
ClinGen | rs138584408 |
ebi | rs138584408 |
HLI | rs138584408 |
Exac | rs138584408 |
Gnomad | rs138584408 |
Varsome | rs138584408 |
LitVar | rs138584408 |
Map | rs138584408 |
PheGenI | rs138584408 |
Biobank | rs138584408 |
1000 genomes | rs138584408 |
hgdp | rs138584408 |
ensembl | rs138584408 |
geneview | rs138584408 |
scholar | rs138584408 |
rs138584408 | |
pharmgkb | rs138584408 |
gwascentral | rs138584408 |
openSNP | rs138584408 |
23andMe | rs138584408 |
SNPshot | rs138584408 |
SNPdbe | rs138584408 |
MSV3d | rs138584408 |
GWAS Ctlg | rs138584408 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138584408(C;C) |
Alt | rs138584408(C;C) |
Reference | Rs138584408(T;T) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I |
Reversed | 0 |
HGVS | NC_000002.11:g.241808284T>C |
CLNSRC | |
CLNACC | RCV000186271.1, |