rs4426527
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs4426527(A;G) |
Make rs4426527(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 240878099 |
Gene | AGXT |
is a | snp |
is | mentioned by |
dbSNP | rs4426527 |
dbSNP (classic) | rs4426527 |
ClinGen | rs4426527 |
ebi | rs4426527 |
HLI | rs4426527 |
Exac | rs4426527 |
Gnomad | rs4426527 |
Varsome | rs4426527 |
LitVar | rs4426527 |
Map | rs4426527 |
PheGenI | rs4426527 |
Biobank | rs4426527 |
1000 genomes | rs4426527 |
hgdp | rs4426527 |
ensembl | rs4426527 |
geneview | rs4426527 |
scholar | rs4426527 |
rs4426527 | |
pharmgkb | rs4426527 |
gwascentral | rs4426527 |
openSNP | rs4426527 |
23andMe | rs4426527 |
SNPshot | rs4426527 |
SNPdbe | rs4426527 |
MSV3d | rs4426527 |
GWAS Ctlg | rs4426527 |
GMAF | 0.1368 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4426527(G;G) |
Alt | rs4426527(G;G) |
Reference | Rs4426527(A;A) |
Significance | Other |
Disease | Primary hyperoxaluria not specified Primary hyperoxaluria |
Variation | info |
Gene | AGXT |
CLNDBN | Primary hyperoxaluria, type I not specified Primary hyperoxaluria |
Reversed | 0 |
HGVS | NC_000002.11:g.241817516A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032682.7, RCV000247828.2, RCV000389779.1, |